A condition with multiple tumor-like lesions caused either by congenital or developmental malformations of BLOOD VESSELS, or reactive vascular proliferations, such as in bacillary angiomatosis. Angiomatosis is considered non-neoplastic.
A congenital disorder that is characterized by a triad of capillary malformations (HEMANGIOMA), venous malformations (ARTERIOVENOUS FISTULA), and soft tissue or bony hypertrophy of the limb. This syndrome is caused by mutations in the VG5Q gene which encodes a strong angiogenesis stimulator.
A characteristic symptom complex.
A chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chromosome 21. Clinical manifestations include hypotonia, short stature, brachycephaly, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, Simian crease, and moderate to severe INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213)
A cluster of metabolic risk factors for CARDIOVASCULAR DISEASES and TYPE 2 DIABETES MELLITUS. The major components of metabolic syndrome X include excess ABDOMINAL FAT; atherogenic DYSLIPIDEMIA; HYPERTENSION; HYPERGLYCEMIA; INSULIN RESISTANCE; a proinflammatory state; and a prothrombotic (THROMBOSIS) state. (from AHA/NHLBI/ADA Conference Proceedings, Circulation 2004; 109:551-556)
A condition characterized by severe PROTEINURIA, greater than 3.5 g/day in an average adult. The substantial loss of protein in the urine results in complications such as HYPOPROTEINEMIA; generalized EDEMA; HYPERTENSION; and HYPERLIPIDEMIAS. Diseases associated with nephrotic syndrome generally cause chronic kidney dysfunction.
Chronic inflammatory and autoimmune disease in which the salivary and lacrimal glands undergo progressive destruction by lymphocytes and plasma cells resulting in decreased production of saliva and tears. The primary form, often called sicca syndrome, involves both KERATOCONJUNCTIVITIS SICCA and XEROSTOMIA. The secondary form includes, in addition, the presence of a connective tissue disease, usually rheumatoid arthritis.
A syndrome of defective gonadal development in phenotypic females associated with the karyotype 45,X (or 45,XO). Patients generally are of short stature with undifferentiated GONADS (streak gonads), SEXUAL INFANTILISM, HYPOGONADISM, webbing of the neck, cubitus valgus, elevated GONADOTROPINS, decreased ESTRADIOL level in blood, and CONGENITAL HEART DEFECTS. NOONAN SYNDROME (also called Pseudo-Turner Syndrome and Male Turner Syndrome) resembles this disorder; however, it occurs in males and females with a normal karyotype and is inherited as an autosomal dominant.
'Abnormalities, Multiple' is a broad term referring to the presence of two or more structural or functional anomalies in an individual, which may be genetic or environmental in origin, and can affect various systems and organs of the body.
Clonal hematopoietic stem cell disorders characterized by dysplasia in one or more hematopoietic cell lineages. They predominantly affect patients over 60, are considered preleukemic conditions, and have high probability of transformation into ACUTE MYELOID LEUKEMIA.
A condition caused by prolonged exposure to excess levels of cortisol (HYDROCORTISONE) or other GLUCOCORTICOIDS from endogenous or exogenous sources. It is characterized by upper body OBESITY; OSTEOPOROSIS; HYPERTENSION; DIABETES MELLITUS; HIRSUTISM; AMENORRHEA; and excess body fluid. Endogenous Cushing syndrome or spontaneous hypercortisolism is divided into two groups, those due to an excess of ADRENOCORTICOTROPIN and those that are ACTH-independent.
An episode of MYOCARDIAL ISCHEMIA that generally lasts longer than a transient anginal episode that ultimately may lead to MYOCARDIAL INFARCTION.
A complex disorder characterized by infertility, HIRSUTISM; OBESITY; and various menstrual disturbances such as OLIGOMENORRHEA; AMENORRHEA; ANOVULATION. Polycystic ovary syndrome is usually associated with bilateral enlarged ovaries studded with atretic follicles, not with cysts. The term, polycystic ovary, is misleading.
A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects both sexes, with onset at birth or in early infancy.
Congenital syndrome characterized by a wide spectrum of characteristics including the absence of the THYMUS and PARATHYROID GLANDS resulting in T-cell immunodeficiency, HYPOCALCEMIA, defects in the outflow tract of the heart, and craniofacial anomalies.
A syndrome associated with defective sympathetic innervation to one side of the face, including the eye. Clinical features include MIOSIS; mild BLEPHAROPTOSIS; and hemifacial ANHIDROSIS (decreased sweating)(see HYPOHIDROSIS). Lesions of the BRAIN STEM; cervical SPINAL CORD; first thoracic nerve root; apex of the LUNG; CAROTID ARTERY; CAVERNOUS SINUS; and apex of the ORBIT may cause this condition. (From Miller et al., Clinical Neuro-Ophthalmology, 4th ed, pp500-11)
An autosomal dominant disorder caused by deletion of the proximal long arm of the paternal chromosome 15 (15q11-q13) or by inheritance of both of the pair of chromosomes 15 from the mother (UNIPARENTAL DISOMY) which are imprinted (GENETIC IMPRINTING) and hence silenced. Clinical manifestations include MENTAL RETARDATION; MUSCULAR HYPOTONIA; HYPERPHAGIA; OBESITY; short stature; HYPOGONADISM; STRABISMUS; and HYPERSOMNOLENCE. (Menkes, Textbook of Child Neurology, 5th ed, p229)
A condition that is characterized by episodes of fainting (SYNCOPE) and varying degree of ventricular arrhythmia as indicated by the prolonged QT interval. The inherited forms are caused by mutation of genes encoding cardiac ion channel proteins. The two major forms are ROMANO-WARD SYNDROME and JERVELL-LANGE NIELSEN SYNDROME.
An acute inflammatory autoimmune neuritis caused by T cell- mediated cellular immune response directed towards peripheral myelin. Demyelination occurs in peripheral nerves and nerve roots. The process is often preceded by a viral or bacterial infection, surgery, immunization, lymphoma, or exposure to toxins. Common clinical manifestations include progressive weakness, loss of sensation, and loss of deep tendon reflexes. Weakness of respiratory muscles and autonomic dysfunction may occur. (From Adams et al., Principles of Neurology, 6th ed, pp1312-1314)
A syndrome that is associated with microvascular diseases of the KIDNEY, such as RENAL CORTICAL NECROSIS. It is characterized by hemolytic anemia (ANEMIA, HEMOLYTIC); THROMBOCYTOPENIA; and ACUTE RENAL FAILURE.
Conditions in which increased pressure within a limited space compromises the BLOOD CIRCULATION and function of tissue within that space. Some of the causes of increased pressure are TRAUMA, tight dressings, HEMORRHAGE, and exercise. Sequelae include nerve compression (NERVE COMPRESSION SYNDROMES); PARALYSIS; and ISCHEMIC CONTRACTURE.
A neuropsychological disorder related to alterations in DOPAMINE metabolism and neurotransmission involving frontal-subcortical neuronal circuits. Both multiple motor and one or more vocal tics need to be present with TICS occurring many times a day, nearly daily, over a period of more than one year. The onset is before age 18 and the disturbance is not due to direct physiological effects of a substance or a another medical condition. The disturbance causes marked distress or significant impairment in social, occupational, or other important areas of functioning. (From DSM-IV, 1994; Neurol Clin 1997 May;15(2):357-79)
The presence of antibodies directed against phospholipids (ANTIBODIES, ANTIPHOSPHOLIPID). The condition is associated with a variety of diseases, notably systemic lupus erythematosus and other connective tissue diseases, thrombopenia, and arterial or venous thromboses. In pregnancy it can cause abortion. Of the phospholipids, the cardiolipins show markedly elevated levels of anticardiolipin antibodies (ANTIBODIES, ANTICARDIOLIPIN). Present also are high levels of lupus anticoagulant (LUPUS COAGULATION INHIBITOR).
A syndrome characterized by outbreaks of late term abortions, high numbers of stillbirths and mummified or weak newborn piglets, and respiratory disease in young unweaned and weaned pigs. It is caused by PORCINE RESPIRATORY AND REPRODUCTIVE SYNDROME VIRUS. (Radostits et al., Veterinary Medicine, 8th ed, p1048)
A form of male HYPOGONADISM, characterized by the presence of an extra X CHROMOSOME, small TESTES, seminiferous tubule dysgenesis, elevated levels of GONADOTROPINS, low serum TESTOSTERONE, underdeveloped secondary sex characteristics, and male infertility (INFERTILITY, MALE). Patients tend to have long legs and a slim, tall stature. GYNECOMASTIA is present in many of the patients. The classic form has the karyotype 47,XXY. Several karyotype variants include 48,XXYY; 48,XXXY; 49,XXXXY, and mosaic patterns ( 46,XY/47,XXY; 47,XXY/48,XXXY, etc.).
Entrapment of the MEDIAN NERVE in the carpal tunnel, which is formed by the flexor retinaculum and the CARPAL BONES. This syndrome may be associated with repetitive occupational trauma (CUMULATIVE TRAUMA DISORDERS); wrist injuries; AMYLOID NEUROPATHIES; rheumatoid arthritis (see ARTHRITIS, RHEUMATOID); ACROMEGALY; PREGNANCY; and other conditions. Symptoms include burning pain and paresthesias involving the ventral surface of the hand and fingers which may radiate proximally. Impairment of sensation in the distribution of the median nerve and thenar muscle atrophy may occur. (Joynt, Clinical Neurology, 1995, Ch51, p45)
An autosomal recessive disorder that causes premature aging in adults, characterized by sclerodermal skin changes, cataracts, subcutaneous calcification, muscular atrophy, a tendency to diabetes mellitus, aged appearance of the face, baldness, and a high incidence of neoplastic disease.
A form of encephalopathy with fatty infiltration of the LIVER, characterized by brain EDEMA and VOMITING that may rapidly progress to SEIZURES; COMA; and DEATH. It is caused by a generalized loss of mitochondrial function leading to disturbances in fatty acid and CARNITINE metabolism.
A group of disorders caused by defective salt reabsorption in the ascending LOOP OF HENLE. It is characterized by severe salt-wasting, HYPOKALEMIA; HYPERCALCIURIA; metabolic ALKALOSIS, and hyper-reninemic HYPERALDOSTERONISM without HYPERTENSION. There are several subtypes including ones due to mutations in the renal specific SODIUM-POTASSIUM-CHLORIDE SYMPORTERS.
A species of ARTERIVIRUS causing reproductive and respiratory disease in pigs. The European strain is called Lelystad virus. Airborne transmission is common.
A syndrome of HEMOLYSIS, elevated liver ENZYMES, and low blood platelets count (THROMBOCYTOPENIA). HELLP syndrome is observed in pregnant women with PRE-ECLAMPSIA or ECLAMPSIA who also exhibit LIVER damage and abnormalities in BLOOD COAGULATION.
An autosomal recessive disorder characterized by telangiectatic ERYTHEMA of the face, photosensitivity, DWARFISM and other abnormalities, and a predisposition toward developing cancer. The Bloom syndrome gene (BLM) encodes a RecQ-like DNA helicase.
An autosomal dominant defect of cardiac conduction that is characterized by an abnormal ST-segment in leads V1-V3 on the ELECTROCARDIOGRAM resembling a right BUNDLE-BRANCH BLOCK; high risk of VENTRICULAR TACHYCARDIA; or VENTRICULAR FIBRILLATION; SYNCOPAL EPISODE; and possible sudden death. This syndrome is linked to mutations of gene encoding the cardiac SODIUM CHANNEL alpha subunit.
A heterogeneous group of autosomally inherited COLLAGEN DISEASES caused by defects in the synthesis or structure of FIBRILLAR COLLAGEN. There are numerous subtypes: classical, hypermobility, vascular, and others. Common clinical features include hyperextensible skin and joints, skin fragility and reduced wound healing capability.
A syndrome characterized by progressive life-threatening RESPIRATORY INSUFFICIENCY in the absence of known LUNG DISEASES, usually following a systemic insult such as surgery or major TRAUMA.
A syndrome characterized by multiple abnormalities, MENTAL RETARDATION, and movement disorders. Present usually are skull and other abnormalities, frequent infantile spasms (SPASMS, INFANTILE); easily provoked and prolonged paroxysms of laughter (hence "happy"); jerky puppetlike movements (hence "puppet"); continuous tongue protrusion; motor retardation; ATAXIA; MUSCLE HYPOTONIA; and a peculiar facies. It is associated with maternal deletions of chromosome 15q11-13 and other genetic abnormalities. (From Am J Med Genet 1998 Dec 4;80(4):385-90; Hum Mol Genet 1999 Jan;8(1):129-35)
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.
A viral disorder characterized by high FEVER, dry COUGH, shortness of breath (DYSPNEA) or breathing difficulties, and atypical PNEUMONIA. A virus in the genus CORONAVIRUS is the suspected agent.
A disorder characterized by aching or burning sensations in the lower and rarely the upper extremities that occur prior to sleep or may awaken the patient from sleep.
Primary immunodeficiency syndrome characterized by recurrent infections and hyperimmunoglobulinemia E. Most cases are sporadic. Of the rare familial forms, the dominantly inherited subtype has additional connective tissue, dental and skeletal involvement that the recessive type does not share.
A rare, X-linked immunodeficiency syndrome characterized by ECZEMA; LYMPHOPENIA; and, recurrent pyogenic infection. It is seen exclusively in young boys. Typically, IMMUNOGLOBULIN M levels are low and IMMUNOGLOBULIN A and IMMUNOGLOBULIN E levels are elevated. Lymphoreticular malignancies are common.
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
In patients with neoplastic diseases a wide variety of clinical pictures which are indirect and usually remote effects produced by tumor cell metabolites or other products.
Condition characterized by large, rapidly extending, erythematous, tender plaques on the upper body usually accompanied by fever and dermal infiltration of neutrophilic leukocytes. It occurs mostly in middle-aged women, is often preceded by an upper respiratory infection, and clinically resembles ERYTHEMA MULTIFORME. Sweet syndrome is associated with LEUKEMIA.
An acquired defect of cellular immunity associated with infection by the human immunodeficiency virus (HIV), a CD4-positive T-lymphocyte count under 200 cells/microliter or less than 14% of total lymphocytes, and increased susceptibility to opportunistic infections and malignant neoplasms. Clinical manifestations also include emaciation (wasting) and dementia. These elements reflect criteria for AIDS as defined by the CDC in 1993.
Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)
Widespread necrotizing angiitis with granulomas. Pulmonary involvement is frequent. Asthma or other respiratory infection may precede evidence of vasculitis. Eosinophilia and lung involvement differentiate this disease from POLYARTERITIS NODOSA.
A non-inherited congenital condition with vascular and neurological abnormalities. It is characterized by facial vascular nevi (PORT-WINE STAIN), and capillary angiomatosis of intracranial membranes (MENINGES; CHOROID). Neurological features include EPILEPSY; cognitive deficits; GLAUCOMA; and visual defects.

Bilateral thoracic bifurcation of the common carotid artery associated with Klippel-Feil anomaly. (1/46)

We report the case of a 72-year-old man with bilateral intrathoracic carotid bifurcations associated with a Klippel-Feil anomaly. The left and right carotid bifurcations were located at levels corresponding to the second and fourth thoracic vertebrae, respectively. A possible association between low carotid bifurcation and the Klippel-Feil anomaly is suggested.  (+info)

A phenothiazine derivative in the treatment of spasticity. (2/46)

The efficacy of a selective fusimotor suppressant, the phenothiazine (+/-)-10-3-dimethylamino-2-methylpropyl)-2-valeroylphenothiazine, has been assessed in a double-blind crossover trail in eight patients suffering from cerebral spasticity and one patient suffering from spinal spasticity. Dosage was 40 mg daily. Independent clinical and electromyographic methods of assessment were used. The active agent produced a small but significant reduction in spasticity, although this was of clinical value in only a few patients. There were few side-effects. It is recommended that further studies using higher dosages be undertaken.  (+info)

Posterior fossa dermoid in association with Klippel-Feil syndrome--a short report. (3/46)

A posterior fossa dermoid cyst in association with the Klippel-Feil syndrome, in a 4 year old child is reported. Early diagnosis to prevent complications like neural compression, cyst rupture and staphylococcal meningitis justifies investigation for posterior fossa dermoids in cases of Klippel-Feil syndrome. Their embryological basis is discussed.  (+info)

Investigations into the association between cervicomedullary neuroschisis and mirror movements in patients with Klippel-Feil syndrome. (4/46)

BACKGROUND AND PURPOSE: Our purpose was to investigate the association between cervicomedullary neuroschisis and mirror movements in patients with Klippel-Feil syndrome (KFS). METHODS: We conducted a retrospective analysis of 23 patients with KFS who were seen at our institution during a 10-year period. Sixteen of the 23 patients had undergone adequate axial view cross-sectional imaging of the upper cervical spine. The degree of neuroschisis was assessed for each patient, using an objective scoring system. Twelve patients were evaluated for the presence or absence of mirror movements. RESULTS: A high percentage of female patients with KFS was noted (17 [74%] of 23 patients). Adequate cross-sectional images were available for 16 of the 23 patients, six (38%) of whom had some form of cervicomedullary neuroschisis. Five of the six patients had been clinically evaluated, and all were shown to have mirror movements. One patient with Chiari II malformation, which obscured evaluation for neuroschisis, also had mirror movements. Of the remaining nine patients without cervicomedullary neuroschisis, six were evaluated, and none of the six had mirror movements. A review of the theoretical neuroanatomic basis of mirror movements is presented herein, and neurosurgical management concerns for patients with KFS are discussed. CONCLUSION: A strong association exists between cervicomedullary neuroschisis and mirror movements in cases of KFS. Screening of patients with mirror movements may help identify clinically unsuspected KFS and may also help stratify risk within this patient population, identifying patients who might benefit from early neurosurgical intervention.  (+info)

Klippel-Feil syndrome - the risk of cervical spinal cord injury: a case report. (5/46)

BACKGROUND: Klippel-Feil syndrome is defined as congenital fusion of two or more cervical vertebrae and is believed to result from faulty segmentation along the embryo's developing axis during weeks 3-8 of gestation. Persons with Klippel-Feil syndrome and cervical stenosis may be at increased risk for spinal cord injury after minor trauma as a result of hypermobility of the various cervical segments. Persons with Klippel-Feil Syndrome often have congenital anomalies of the urinary tract as well. CASE PRESENTATION: A 51-year male developed incomplete tetraplegia in 1997 when he slipped and fell backwards hitting his head on the floor. X-rays of cervical spine showed fusion at two levels: C2 and C3 vertebrae, and C4 and C5 vertebrae. Intravenous urography (IVU) revealed no kidneys in the renal fossa on both sides, but the presence of crossed, fused renal ectopia in the left ilio-lumbar region. This patient had a similar cervical spinal cord injury about 15 years ago, when he developed transient numbness and paresis of the lower limbs following a fall. DISCUSSION AND CONCLUSION: 1) Persons with Klippel-Feil syndrome should be made aware of the increased risk of sustaining transient neurologic deterioration after minor trauma if there is associated radiographic evidence of spinal stenosis.2) Patients with Klippel-Feil syndrome often have congenital anomalies of the urinary tract. Our patient had crossed, fused, ectopia of kidney.3) When patients with Klippel-Feil syndrome sustain tetraplegia they have increased chances of developing urinary tract calculi. Treatment of kidney stones may pose a challenge because of associated renal anomalies.4) Health professionals caring for cervical spinal cord injury patients with Klippel-Feil syndrome and renal anomalies should place emphasis on prevention of kidney stones. A large fluid intake is recommended for these patients, as a high intake of fluids is still the most powerful and certainly the most economical means of prevention of nephrolithiasis.  (+info)

Mutations in PAX1 may be associated with Klippel-Feil syndrome. (6/46)

Pax genes are a highly conserved family of developmental control genes that encode transcription factors. In vertebrates, Pax genes play a role in pattern formation during embryogenesis. Mutations in Pax genes have been associated with both spontaneous mouse mutants and congenital human diseases. The mouse Pax1 mutant phenotype undulated is characterised by vertebral segmentation defects reminiscent of the human disorder Klippel-Feil syndrome (KFS). To determine whether PAX1 haploinsufficiency plays a role in KFS, we have defined the gene structure of the human PAX1 gene and screened 63 KFS patients for mutations in this gene. Differences in the PAX1 sequence were detected in eight patients. Two patients had a silent change within the paired box that was also seen in 2/303 control chromosomes. The other variants were missense, silent or intronic changes not represented in the control panel tested. The significance of these results and the possible role of PAX1 in the pathogenesis of KFS are discussed.  (+info)

Wildervanck syndrome (cervico-oculo-acoustic syndrome). (7/46)

Wildervanck syndrome i.e. cervico (Klippel-Feil anomalad) -oculo (Duane-Stilling-Turk phenomenon with bilateral abducens palsy)-acoustic (deafness) is a rare syndrome. We report here 4 cases diagnosed as Wildervanck syndrome and analyse their findings. One patient had an an atrial septal defect. Such association of congenital heart disease with Wildervanck syndrome has not been reported previously.  (+info)

Surgical management of high cervical disc prolapse associated with basilar invagination--two case reports. (8/46)

C3-4 cervical disc prolapse was associated with basilar invagination and short neck in a 21-year-old man and additionally with an extensive Klippel-Feil abnormality and fusion of multiple cervical vertebrae in a 32-year-old man. The transoral surgical route was adopted for cervical discectomy in the latter case and an additional odontoidectomy in the former case. Interbody plate and screw fixation was carried out in the patient with Klippel-Feil abnormality. Both the patients were relieved of symptoms and remained asymptomatic at follow up. Simultaneous fixation procedure is not mandatory after transoral surgery in patients with basilar invagination.  (+info)

Angiomatosis is a medical term that refers to a benign condition characterized by the proliferation of blood vessels in various tissues and organs. It is typically composed of small, tangled blood vessels called capillaries, which can form clusters or networks. The condition can affect skin, internal organs, bones, and other tissues.

Angiomatosis is often asymptomatic and may be discovered incidentally during medical imaging or surgical procedures. In some cases, it may cause symptoms such as pain, swelling, or bleeding, depending on the location and extent of the lesions.

While angiomatosis is generally a benign condition, in rare cases, it can be associated with malignant tumors or other medical conditions. Treatment options for angiomatosis depend on the size, location, and symptoms of the lesions and may include observation, medication, or surgical removal.

Klippel-Trenaunay-Weber Syndrome (KTWS) is a rare and complex congenital vascular disorder that affects the development of blood vessels, soft tissues, and bones. It is also known as Klippel-Trenaunay syndrome or KTS.

The medical definition of KTWS includes the following features:
1. Port-wine stain (capillary malformation): A red or purple birthmark caused by an abnormal collection of blood vessels in the skin, often present at birth and usually affecting one limb or part of the body.
2. Venous and lymphatic abnormalities: Varicose veins, dilated veins, or abnormal vein patterns may be present, along with lymphatic malformations that can cause swelling in the affected area.
3. Soft tissue and bone hypertrophy: Overgrowth of soft tissues and bones in the affected limb or region, leading to asymmetry and sometimes functional impairment.
4. Other possible features: May include skin abnormalities, such as increased hair growth or changes in texture; joint deformities; and orthopedic problems, like scoliosis or hip dysplasia.

It is important to note that the severity of KTWS can vary significantly from person to person, ranging from mild symptoms to severe cases with significant functional impairment. The condition is not typically life-threatening but may require ongoing medical management and surveillance to address potential complications, such as infections, bleeding, or deep vein thrombosis.

A syndrome, in medical terms, is a set of symptoms that collectively indicate or characterize a disease, disorder, or underlying pathological process. It's essentially a collection of signs and/or symptoms that frequently occur together and can suggest a particular cause or condition, even though the exact physiological mechanisms might not be fully understood.

For example, Down syndrome is characterized by specific physical features, cognitive delays, and other developmental issues resulting from an extra copy of chromosome 21. Similarly, metabolic syndromes like diabetes mellitus type 2 involve a group of risk factors such as obesity, high blood pressure, high blood sugar, and abnormal cholesterol or triglyceride levels that collectively increase the risk of heart disease, stroke, and diabetes.

It's important to note that a syndrome is not a specific diagnosis; rather, it's a pattern of symptoms that can help guide further diagnostic evaluation and management.

Down syndrome is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. It is characterized by intellectual and developmental disabilities, distinctive facial features, and sometimes physical growth delays and health problems. The condition affects approximately one in every 700 babies born in the United States.

Individuals with Down syndrome have varying degrees of cognitive impairment, ranging from mild to moderate or severe. They may also have delayed development, including late walking and talking, and may require additional support and education services throughout their lives.

People with Down syndrome are at increased risk for certain health conditions, such as congenital heart defects, respiratory infections, hearing loss, vision problems, gastrointestinal issues, and thyroid disorders. However, many individuals with Down syndrome live healthy and fulfilling lives with appropriate medical care and support.

The condition is named after John Langdon Down, an English physician who first described the syndrome in 1866.

Metabolic syndrome, also known as Syndrome X, is a cluster of conditions that increase the risk of heart disease, stroke, and diabetes. It is not a single disease but a group of risk factors that often co-occur. According to the American Heart Association and the National Heart, Lung, and Blood Institute, a person has metabolic syndrome if they have any three of the following five conditions:

1. Abdominal obesity (waist circumference of 40 inches or more in men, and 35 inches or more in women)
2. Triglyceride level of 150 milligrams per deciliter of blood (mg/dL) or greater
3. HDL cholesterol level of less than 40 mg/dL in men or less than 50 mg/dL in women
4. Systolic blood pressure of 130 millimeters of mercury (mmHg) or greater, or diastolic blood pressure of 85 mmHg or greater
5. Fasting glucose level of 100 mg/dL or greater

Metabolic syndrome is thought to be caused by a combination of genetic and lifestyle factors, such as physical inactivity and a diet high in refined carbohydrates and unhealthy fats. Treatment typically involves making lifestyle changes, such as eating a healthy diet, getting regular exercise, and losing weight if necessary. In some cases, medication may also be needed to manage individual components of the syndrome, such as high blood pressure or high cholesterol.

Nephrotic syndrome is a group of symptoms that indicate kidney damage, specifically damage to the glomeruli—the tiny blood vessel clusters in the kidneys that filter waste and excess fluids from the blood. The main features of nephrotic syndrome are:

1. Proteinuria (excess protein in urine): Large amounts of a protein called albumin leak into the urine due to damaged glomeruli, which can't properly filter proteins. This leads to low levels of albumin in the blood, causing fluid buildup and swelling.
2. Hypoalbuminemia (low blood albumin levels): As albumin leaks into the urine, the concentration of albumin in the blood decreases, leading to hypoalbuminemia. This can cause edema (swelling), particularly in the legs, ankles, and feet.
3. Edema (fluid retention and swelling): With low levels of albumin in the blood, fluids move into the surrounding tissues, causing swelling or puffiness. The swelling is most noticeable around the eyes, face, hands, feet, and abdomen.
4. Hyperlipidemia (high lipid/cholesterol levels): The kidneys play a role in regulating lipid metabolism. Damage to the glomeruli can lead to increased lipid production and high cholesterol levels in the blood.

Nephrotic syndrome can result from various underlying kidney diseases, such as minimal change disease, membranous nephropathy, or focal segmental glomerulosclerosis. Treatment depends on the underlying cause and may include medications to control inflammation, manage high blood pressure, and reduce proteinuria. In some cases, dietary modifications and lifestyle changes are also recommended.

Sjögren's syndrome is a chronic autoimmune disorder in which the body's immune system mistakenly attacks its own moisture-producing glands, particularly the tear and salivary glands. This can lead to symptoms such as dry eyes, dry mouth, and dryness in other areas of the body. In some cases, it may also affect other organs, leading to a variety of complications.

There are two types of Sjögren's syndrome: primary and secondary. Primary Sjögren's syndrome occurs when the condition develops on its own, while secondary Sjögren's syndrome occurs when it develops in conjunction with another autoimmune disease, such as rheumatoid arthritis or lupus.

The exact cause of Sjögren's syndrome is not fully understood, but it is believed to involve a combination of genetic and environmental factors. Treatment typically focuses on relieving symptoms and may include artificial tears, saliva substitutes, medications to stimulate saliva production, and immunosuppressive drugs in more severe cases.

Turner Syndrome is a genetic disorder that affects females, caused by complete or partial absence of one X chromosome. The typical karyotype is 45,X0 instead of the normal 46,XX in women. This condition leads to distinctive physical features and medical issues in growth, development, and fertility. Characteristic features include short stature, webbed neck, low-set ears, and swelling of the hands and feet. Other potential symptoms can include heart defects, hearing and vision problems, skeletal abnormalities, kidney issues, and learning disabilities. Not all individuals with Turner Syndrome will have every symptom, but most will require medical interventions and monitoring throughout their lives to address various health concerns associated with the condition.

'Abnormalities, Multiple' is a broad term that refers to the presence of two or more structural or functional anomalies in an individual. These abnormalities can be present at birth (congenital) or can develop later in life (acquired). They can affect various organs and systems of the body and can vary greatly in severity and impact on a person's health and well-being.

Multiple abnormalities can occur due to genetic factors, environmental influences, or a combination of both. Chromosomal abnormalities, gene mutations, exposure to teratogens (substances that cause birth defects), and maternal infections during pregnancy are some of the common causes of multiple congenital abnormalities.

Examples of multiple congenital abnormalities include Down syndrome, Turner syndrome, and VATER/VACTERL association. Acquired multiple abnormalities can result from conditions such as trauma, infection, degenerative diseases, or cancer.

The medical evaluation and management of individuals with multiple abnormalities depend on the specific abnormalities present and their impact on the individual's health and functioning. A multidisciplinary team of healthcare professionals is often involved in the care of these individuals to address their complex needs.

Myelodysplastic syndromes (MDS) are a group of diverse bone marrow disorders characterized by dysplasia (abnormal development or maturation) of one or more types of blood cells or by ineffective hematopoiesis, resulting in cytopenias (lower than normal levels of one or more types of blood cells). MDS can be classified into various subtypes based on the number and type of cytopenias, the degree of dysplasia, the presence of ring sideroblasts, and cytogenetic abnormalities.

The condition primarily affects older adults, with a median age at diagnosis of around 70 years. MDS can evolve into acute myeloid leukemia (AML) in approximately 30-40% of cases. The pathophysiology of MDS involves genetic mutations and chromosomal abnormalities that lead to impaired differentiation and increased apoptosis of hematopoietic stem and progenitor cells, ultimately resulting in cytopenias and an increased risk of developing AML.

The diagnosis of MDS typically requires a bone marrow aspiration and biopsy, along with cytogenetic and molecular analyses to identify specific genetic mutations and chromosomal abnormalities. Treatment options for MDS depend on the subtype, severity of cytopenias, and individual patient factors. These may include supportive care measures, such as transfusions and growth factor therapy, or more aggressive treatments, such as chemotherapy and stem cell transplantation.

Cushing syndrome is a hormonal disorder that occurs when your body is exposed to high levels of the hormone cortisol for a long time. This can happen due to various reasons such as taking high doses of corticosteroid medications or tumors that produce cortisol or adrenocorticotropic hormone (ACTH).

The symptoms of Cushing syndrome may include:

* Obesity, particularly around the trunk and upper body
* Thinning of the skin, easy bruising, and purple or red stretch marks on the abdomen, thighs, breasts, and arms
* Weakened bones, leading to fractures
* High blood pressure
* High blood sugar
* Mental changes such as depression, anxiety, and irritability
* Increased fatigue and weakness
* Menstrual irregularities in women
* Decreased fertility in men

Cushing syndrome can be diagnosed through various tests, including urine and blood tests to measure cortisol levels, saliva tests, and imaging tests to locate any tumors. Treatment depends on the cause of the condition but may include surgery, radiation therapy, chemotherapy, or adjusting medication dosages.

Acute Coronary Syndrome (ACS) is a term used to describe a range of conditions associated with sudden, reduced blood flow to the heart muscle. This reduction in blood flow, commonly caused by blood clots forming in coronary arteries, can lead to damage or death of the heart muscle and is often characterized by symptoms such as chest pain, shortness of breath, and fatigue.

There are three main types of ACS:

1. Unstable Angina: This occurs when there is reduced blood flow to the heart muscle, causing chest pain or discomfort, but the heart muscle is not damaged. It can be a warning sign for a possible future heart attack.
2. Non-ST Segment Elevation Myocardial Infarction (NSTEMI): This type of heart attack occurs when there is reduced blood flow to the heart muscle, causing damage or death of some of the muscle cells. However, the electrical activity of the heart remains relatively normal.
3. ST Segment Elevation Myocardial Infarction (STEMI): This is a serious and life-threatening type of heart attack that occurs when there is a complete blockage in one or more of the coronary arteries, causing extensive damage to the heart muscle. The electrical activity of the heart is significantly altered, which can lead to dangerous heart rhythms and even cardiac arrest.

Immediate medical attention is required for anyone experiencing symptoms of ACS, as prompt treatment can help prevent further damage to the heart muscle and reduce the risk of complications or death. Treatment options may include medications, lifestyle changes, and procedures such as angioplasty or bypass surgery.

Polycyctic Ovary Syndrome (PCOS) is a complex endocrine-metabolic disorder characterized by the presence of hyperandrogenism (excess male hormones), ovulatory dysfunction, and polycystic ovaries. The Rotterdam criteria are commonly used for diagnosis, which require at least two of the following three features:

1. Oligo- or anovulation (irregular menstrual cycles)
2. Clinical and/or biochemical signs of hyperandrogenism (e.g., hirsutism, acne, or high levels of androgens in the blood)
3. Polycystic ovaries on ultrasound examination (presence of 12 or more follicles measuring 2-9 mm in diameter, or increased ovarian volume >10 mL)

The exact cause of PCOS remains unclear, but it is believed to involve a combination of genetic and environmental factors. Insulin resistance and obesity are common findings in women with PCOS, which can contribute to the development of metabolic complications such as type 2 diabetes, dyslipidemia, and cardiovascular disease.

Management of PCOS typically involves a multidisciplinary approach that includes lifestyle modifications (diet, exercise, weight loss), medications to regulate menstrual cycles and reduce hyperandrogenism (e.g., oral contraceptives, metformin, anti-androgens), and fertility treatments if desired. Regular monitoring of metabolic parameters and long-term follow-up are essential for optimal management and prevention of complications.

Williams Syndrome is a rare genetic disorder caused by the deletion of a small portion of chromosome 7. This results in various developmental and medical problems, which can include:

1. Distinctive facial features such as a broad forehead, wide-set eyes, short nose, and full lips.
2. Cardiovascular disease, particularly narrowed or missing blood vessels near the heart.
3. Developmental delays and learning disabilities, although most people with Williams Syndrome have an IQ in the mild to moderate range of intellectual disability.
4. A unique pattern of strengths and weaknesses in cognitive skills, such as strong language skills but significant difficulty with visual-spatial tasks.
5. Overly friendly or sociable personality, often displaying a lack of fear or wariness around strangers.
6. Increased risk of anxiety and depression.
7. Sensitive hearing and poor depth perception.
8. Short stature in adulthood.

Williams Syndrome affects about 1 in every 10,000 people worldwide, regardless of race or ethnic background. It is not an inherited disorder, but rather a spontaneous genetic mutation.

DiGeorge syndrome is a genetic disorder caused by the deletion of a small piece of chromosome 22. It is also known as 22q11.2 deletion syndrome. The symptoms and severity can vary widely among affected individuals, but often include birth defects such as congenital heart disease, poor immune system function, and palatal abnormalities. Characteristic facial features, learning disabilities, and behavioral problems are also common. Some people with DiGeorge syndrome may have mild symptoms while others may be more severely affected. The condition is typically diagnosed through genetic testing. Treatment is focused on managing the specific symptoms and may include surgery, medications, and therapy.

Horner syndrome, also known as Horner's syndrome or oculosympathetic palsy, is a neurological disorder characterized by the interruption of sympathetic nerve pathways that innervate the head and neck, leading to a constellation of signs affecting the eye and face on one side of the body.

The classic triad of symptoms includes:

1. Ptosis (drooping) of the upper eyelid: This is due to the weakness or paralysis of the levator palpebrae superioris muscle, which is responsible for elevating the eyelid.
2. Miosis (pupillary constriction): The affected pupil becomes smaller in size compared to the other side, and it may not react as robustly to light.
3. Anhydrosis (decreased sweating): There is reduced or absent sweating on the ipsilateral (same side) of the face, particularly around the forehead and upper eyelid.

Horner syndrome can be caused by various underlying conditions, such as brainstem stroke, tumors, trauma, or certain medical disorders affecting the sympathetic nervous system. The diagnosis typically involves a thorough clinical examination, pharmacological testing, and sometimes imaging studies to identify the underlying cause. Treatment is directed towards managing the underlying condition responsible for Horner syndrome.

Prader-Willi Syndrome (PWS) is a genetic disorder that affects several parts of the body and is characterized by a range of symptoms including:

1. Developmental delays and intellectual disability.
2. Hypotonia (low muscle tone) at birth, which can lead to feeding difficulties in infancy.
3. Excessive appetite and obesity, typically beginning around age 2, due to a persistent hunger drive and decreased satiety.
4. Behavioral problems such as temper tantrums, stubbornness, and compulsive behaviors.
5. Hormonal imbalances leading to short stature, small hands and feet, incomplete sexual development, and decreased bone density.
6. Distinctive facial features including a thin upper lip, almond-shaped eyes, and a narrowed forehead.
7. Sleep disturbances such as sleep apnea or excessive daytime sleepiness.

PWS is caused by the absence of certain genetic material on chromosome 15, which results in abnormal gene function. It affects both males and females equally and has an estimated incidence of 1 in 10,000 to 30,000 live births. Early diagnosis and management can help improve outcomes for individuals with PWS.

Long QT syndrome (LQTS) is a cardiac electrical disorder characterized by a prolonged QT interval on the electrocardiogram (ECG), which can potentially trigger rapid, chaotic heartbeats known as ventricular tachyarrhythmias, such as torsades de pointes. These arrhythmias can be life-threatening and lead to syncope (fainting) or sudden cardiac death. LQTS is often congenital but may also be acquired due to certain medications, medical conditions, or electrolyte imbalances. It's essential to identify and manage LQTS promptly to reduce the risk of severe complications.

Guillain-Barré syndrome (GBS) is a rare autoimmune disorder in which the body's immune system mistakenly attacks the peripheral nervous system, leading to muscle weakness, tingling sensations, and sometimes paralysis. The peripheral nervous system includes the nerves that control our movements and transmit signals from our skin, muscles, and joints to our brain.

The onset of GBS usually occurs after a viral or bacterial infection, such as respiratory or gastrointestinal infections, or following surgery, vaccinations, or other immune system triggers. The exact cause of the immune response that leads to GBS is not fully understood.

GBS typically progresses rapidly over days or weeks, with symptoms reaching their peak within 2-4 weeks after onset. Most people with GBS experience muscle weakness that starts in the lower limbs and spreads upward to the upper body, arms, and face. In severe cases, the diaphragm and chest muscles may become weakened, leading to difficulty breathing and requiring mechanical ventilation.

The diagnosis of GBS is based on clinical symptoms, nerve conduction studies, and sometimes cerebrospinal fluid analysis. Treatment typically involves supportive care, such as pain management, physical therapy, and respiratory support if necessary. In addition, plasma exchange (plasmapheresis) or intravenous immunoglobulin (IVIG) may be used to reduce the severity of symptoms and speed up recovery.

While most people with GBS recover completely or with minimal residual symptoms, some may experience long-term disability or require ongoing medical care. The prognosis for GBS varies depending on the severity of the illness and the individual's age and overall health.

Hemolytic-Uremic Syndrome (HUS) is a serious condition that affects the blood and kidneys. It is characterized by three major features: the breakdown of red blood cells (hemolysis), the abnormal clotting of small blood vessels (microthrombosis), and acute kidney failure.

The breakdown of red blood cells leads to the release of hemoglobin into the bloodstream, which can cause anemia. The microthrombi can obstruct the flow of blood in the kidneys' filtering system (glomeruli), leading to damaged kidney function and potentially acute kidney failure.

HUS is often caused by a bacterial infection, most commonly Escherichia coli (E. coli) that produces Shiga toxins. This form of HUS is known as STEC-HUS or Stx-HUS. Other causes include infections with other bacteria, viruses, medications, pregnancy complications, and certain medical conditions such as autoimmune diseases.

Symptoms of HUS may include fever, fatigue, decreased urine output, blood in the stool, swelling in the face, hands, or feet, and irritability or confusion. Treatment typically involves supportive care, including dialysis for kidney failure, transfusions to replace lost red blood cells, and managing high blood pressure. In severe cases, a kidney transplant may be necessary.

Compartment syndromes refer to a group of conditions characterized by increased pressure within a confined anatomical space (compartment), leading to impaired circulation and nerve function. These compartments are composed of bones, muscles, tendons, blood vessels, and nerves, surrounded by a tough fibrous fascial covering that does not expand easily.

There are two main types of compartment syndromes: acute and chronic.

1. Acute Compartment Syndrome (ACS): This is a medical emergency that typically occurs after trauma, fractures, or prolonged compression of the affected limb. The increased pressure within the compartment reduces blood flow to the muscles and nerves, causing ischemia, pain, and potential muscle and nerve damage if not promptly treated with fasciotomy (surgical release of the fascial covering). Symptoms include severe pain disproportionate to the injury, pallor, paresthesia (abnormal sensation), pulselessness, and paralysis.
2. Chronic Compartment Syndrome (CCS) or Exertional Compartment Syndrome: This condition is caused by repetitive physical activities that lead to increased compartment pressure over time. The symptoms are usually reversible with rest and may include aching, cramping, tightness, or swelling in the affected limb during exercise. CCS rarely leads to permanent muscle or nerve damage if managed appropriately with activity modification, physical therapy, and occasionally surgical intervention (fasciotomy or fasciectomy).

Early recognition and appropriate management of compartment syndromes are crucial for preventing long-term complications such as muscle necrosis, contractures, and nerve damage.

Tourette Syndrome (TS) is a neurological disorder characterized by the presence of multiple motor tics and at least one vocal (phonic) tic. These tics are sudden, repetitive, rapid, involuntary movements or sounds that occur for more than a year and are not due to substance use or other medical conditions. The symptoms typically start before the age of 18, with the average onset around 6-7 years old.

The severity, frequency, and types of tics can vary greatly among individuals with TS and may change over time. Common motor tics include eye blinking, facial grimacing, shoulder shrugging, and head or limb jerking. Vocal tics can range from simple sounds like throat clearing, coughing, or barking to more complex phrases or words.

In some cases, TS may be accompanied by co-occurring conditions such as attention deficit hyperactivity disorder (ADHD), obsessive-compulsive disorder (OCD), anxiety, and depression. These associated symptoms can sometimes have a greater impact on daily functioning than the tics themselves.

The exact cause of Tourette Syndrome remains unclear, but it is believed to involve genetic factors and abnormalities in certain brain regions involved in movement control and inhibition. There is currently no cure for TS, but various treatments, including behavioral therapy and medications, can help manage the symptoms and improve quality of life.

Antiphospholipid syndrome (APS) is an autoimmune disorder characterized by the presence of antiphospholipid antibodies in the blood. These antibodies are directed against phospholipids, a type of fat molecule found in cell membranes and plasma lipoproteins. The presence of these antibodies can lead to abnormal blood clotting, which can cause serious complications such as stroke, heart attack, deep vein thrombosis, and pulmonary embolism.

APS can occur either on its own (primary APS) or in conjunction with other autoimmune disorders, such as systemic lupus erythematosus (secondary APS). The exact cause of APS is not fully understood, but it is believed to involve a combination of genetic and environmental factors.

Symptoms of APS can vary widely depending on the location and severity of the blood clots. They may include:

* Recurrent miscarriages or stillbirths
* Blood clots in the legs, lungs, or other parts of the body
* Skin ulcers or lesions
* Headaches, seizures, or stroke-like symptoms
* Kidney problems
* Heart valve abnormalities

Diagnosis of APS typically involves blood tests to detect the presence of antiphospholipid antibodies. Treatment may include medications to prevent blood clots, such as anticoagulants and antiplatelet agents, as well as management of any underlying autoimmune disorders.

Porcine Reproductive and Respiratory Syndrome (PRRS) is a viral disease that affects pigs, causing reproductive failure in breeding herds and respiratory illness in young pigs. The disease is caused by the PRRS virus, which belongs to the family Arteriviridae.

In pregnant sows, PRRS can cause abortions, stillbirths, mummified fetuses, and weak or infertile offspring. In growing pigs, it can lead to pneumonia, reduced growth rates, and increased susceptibility to other infections. The virus is highly contagious and can spread rapidly within a herd through direct contact with infected pigs, aerosols, or contaminated fomites.

PRRS is a significant disease of global importance, causing substantial economic losses to the swine industry. Control measures include biosecurity practices, vaccination, and testing to detect and eliminate the virus from affected herds. However, there is no specific treatment for PRRS, and eradication of the virus from the pig population is unlikely due to its widespread distribution and ability to persist in infected animals and the environment.

Klinefelter Syndrome: A genetic disorder in males, caused by the presence of one or more extra X chromosomes, typically resulting in XXY karyotype. It is characterized by small testes, infertility, gynecomastia (breast enlargement), tall stature, and often mild to moderate intellectual disability. The symptoms can vary greatly among individuals with Klinefelter Syndrome. Some men may not experience any significant health problems and may never be diagnosed, while others may have serious medical or developmental issues that require treatment. It is one of the most common chromosomal disorders, affecting about 1 in every 500-1,000 newborn males.

Carpal Tunnel Syndrome (CTS) is a common peripheral nerve disorder that affects the median nerve, which runs from the forearm into the hand through a narrow tunnel-like structure in the wrist called the carpal tunnel. The condition is caused by compression or pinching of the median nerve as it passes through this tunnel, leading to various symptoms such as numbness, tingling, and weakness in the hand and fingers.

The median nerve provides sensation to the thumb, index finger, middle finger, and half of the ring finger. It also controls some small muscles in the hand that allow for fine motor movements. When the median nerve is compressed or damaged due to CTS, it can result in a range of symptoms including:

1. Numbness, tingling, or burning sensations in the fingers (especially the thumb, index finger, middle finger, and half of the ring finger)
2. Pain or discomfort in the hand, wrist, or forearm
3. Weakness in the hand, leading to difficulty gripping objects or making a fist
4. A sensation of swelling or inflammation in the fingers, even if there is no visible swelling present
5. Nighttime symptoms that may disrupt sleep patterns

The exact cause of Carpal Tunnel Syndrome can vary from person to person, but some common risk factors include:

1. Repetitive hand and wrist motions (such as typing, writing, or using tools)
2. Prolonged exposure to vibrations (from machinery or power tools)
3. Wrist trauma or fractures
4. Pregnancy and hormonal changes
5. Certain medical conditions like diabetes, rheumatoid arthritis, and thyroid disorders
6. Obesity
7. Smoking

Diagnosis of Carpal Tunnel Syndrome typically involves a physical examination, medical history review, and sometimes specialized tests like nerve conduction studies or electromyography to confirm the diagnosis and assess the severity of the condition. Treatment options may include splinting, medication, corticosteroid injections, and in severe cases, surgery to relieve pressure on the median nerve.

Werner Syndrome is a rare, autosomal recessive genetic disorder characterized by the appearance of premature aging. It's often referred to as "progeria of the adult" or "adult progeria." The syndrome is caused by mutations in the WRN gene, which provides instructions for making a protein involved in repairing damaged DNA and maintaining the stability of the genetic information.

The symptoms typically begin in a person's late teens or early twenties and may include:
- Short stature
- Premature graying and loss of hair
- Skin changes, such as scleroderma (a thickening and hardening of the skin) and ulcers
- Voice changes
- Type 2 diabetes
- Cataracts
- Atherosclerosis (the buildup of fats, cholesterol, and other substances in and on the artery walls)
- Increased risk of cancer

The life expectancy of individuals with Werner Syndrome is typically around 45 to 50 years. It's important to note that while there are similarities between Werner Syndrome and other forms of progeria, such as Hutchinson-Gilford Progeria Syndrome, they are distinct conditions with different genetic causes and clinical features.

Reye Syndrome is a rare but serious condition that primarily affects children and teenagers, particularly those who have recently recovered from viral infections such as chickenpox or flu. It is characterized by rapidly progressive encephalopathy (brain dysfunction) and fatty degeneration of the liver.

The exact cause of Reye Syndrome remains unknown, but it has been linked to the use of aspirin and other salicylate-containing medications during viral illnesses. The American Academy of Pediatrics recommends avoiding the use of aspirin in children and teenagers with chickenpox or flu-like symptoms due to this association.

Early symptoms of Reye Syndrome include persistent vomiting, diarrhea, and listlessness. As the condition progresses, symptoms can worsen and may include disorientation, seizures, coma, and even death in severe cases. Diagnosis is typically based on clinical presentation, laboratory tests, and sometimes a liver biopsy.

Treatment for Reye Syndrome involves supportive care, such as fluid and electrolyte management, addressing metabolic abnormalities, controlling intracranial pressure, and providing ventilatory support if necessary. Early recognition and intervention are crucial to improving outcomes in affected individuals.

Bartter syndrome is a rare genetic disorder that affects the kidneys' ability to reabsorb sodium and chloride, leading to an imbalance of electrolytes in the body. This condition is characterized by hypokalemia (low potassium levels), metabolic alkalosis (high pH levels in the blood), and normal or low blood pressure. It can also result in increased urine production, excessive thirst, and growth retardation in children. There are two major types of Bartter syndrome, based on the genes affected: type I caused by mutations in the SLC12A1 gene, and type II caused by mutations in the KCNJ1 gene. Type III is caused by mutations in the CLCNKB gene, while type IV is caused by mutations in the BSND or CLCNKB genes. Treatment typically involves supplementation of electrolytes, such as potassium and magnesium, as well as nonsteroidal anti-inflammatory drugs (NSAIDs) to help reduce sodium loss in the urine.

Porcine Respiratory and Reproductive Syndrome Virus (PRRSV) is an enveloped, positive-stranded RNA virus belonging to the Arteriviridae family. It is the causative agent of Porcine Respiratory and Reproductive Syndrome (PRRS), also known as "blue ear disease" or "porcine reproductive and respiratory syndrome."

The virus primarily affects pigs, causing a wide range of clinical signs including respiratory distress in young animals and reproductive failure in pregnant sows. The infection can lead to late-term abortions, stillbirths, premature deliveries, and weak or mummified fetuses. In growing pigs, PRRSV can cause pneumonia, which is often accompanied by secondary bacterial infections.

PRRSV has a tropism for cells of the monocyte-macrophage lineage, and it replicates within these cells, leading to the release of pro-inflammatory cytokines and the development of the clinical signs associated with the disease. The virus is highly infectious and can spread rapidly in susceptible pig populations, making it a significant concern for the swine industry worldwide.

It's important to note that PRRSV has two distinct genotypes: Type 1 (European) and Type 2 (North American). Both types have a high degree of genetic diversity, which can make controlling the virus challenging. Vaccination is available for PRRSV, but it may not provide complete protection against all strains of the virus, and it may not prevent infection or shedding. Therefore, biosecurity measures, such as strict sanitation and animal movement controls, are critical to preventing the spread of this virus in pig populations.

HELLP syndrome is a serious complication in pregnancy, characterized by Hemolysis (the breakdown of red blood cells), Elevated Liver enzymes, and Low Platelet count. It is often considered a variant of severe preeclampsia or eclampsia, although it can also occur without these conditions.

The symptoms of HELLP syndrome include headache, nausea and vomiting, upper right abdominal pain, and visual disturbances. It can lead to serious complications for both the mother and the baby, such as liver failure, placental abruption, disseminated intravascular coagulation (DIC), and even death if not promptly diagnosed and treated.

The exact cause of HELLP syndrome is not known, but it is thought to be related to problems with the blood vessels that supply the placenta. Treatment typically involves delivering the baby as soon as possible, even if the baby is premature. Women who have had HELLP syndrome are at increased risk for complications in future pregnancies.

Bloom syndrome is a rare genetic disorder characterized by short stature, sun-sensitive skin rash, and an increased risk of developing cancer. It is caused by mutations in the BLM gene, which provides instructions for making a protein that helps prevent tangles and knots from forming in DNA during cell division. As a result, cells with Bloom syndrome have a high rate of genetic recombination, leading to chromosomal instability and an increased risk of cancer.

Individuals with Bloom syndrome typically have a distinctive facial appearance, including a narrow face, small jaw, and a prominent nose. They may also have learning disabilities, fertility problems, and an increased susceptibility to infections. The condition is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to develop the disorder. Bloom syndrome is typically diagnosed through genetic testing and chromosome analysis. Treatment is focused on managing the symptoms and reducing the risk of cancer through regular screenings and lifestyle modifications.

Brugada Syndrome is a genetic disorder characterized by abnormal electrocardiogram (ECG) findings and an increased risk of sudden cardiac death. It is typically caused by a mutation in the SCN5A gene, which encodes for a sodium channel protein in the heart. This mutation can lead to abnormal ion transport in the heart cells, causing changes in the electrical activity of the heart that can trigger dangerous arrhythmias.

The ECG findings associated with Brugada Syndrome include a distinct pattern of ST-segment elevation in the right precordial leads (V1-V3), which can appear spontaneously or be induced by certain medications. The syndrome is often classified into two types based on the presence or absence of symptoms:

* Type 1 Brugada Syndrome: This type is characterized by a coved-type ST-segment elevation of at least 2 mm in height in at least one right precordial lead, with a negative T wave. This pattern must be present to make the diagnosis, and it should not be transient or induced by any medication or condition. Type 1 Brugada Syndrome is associated with a higher risk of sudden cardiac death.
* Type 2 Brugada Syndrome: This type is characterized by a saddleback-type ST-segment elevation of at least 2 mm in height in at least one right precordial lead, with a positive or biphasic T wave. The ST segment should return to the baseline level or below within 0.08 seconds after the J point (the junction between the QRS complex and the ST segment). Type 2 Brugada Syndrome is associated with a lower risk of sudden cardiac death compared to Type 1, but it can still pose a significant risk in some individuals.

Brugada Syndrome can affect people of any age, gender, or ethnicity, although it is more commonly diagnosed in middle-aged men of Asian descent. The syndrome can be inherited in an autosomal dominant manner, meaning that a child has a 50% chance of inheriting the mutation from a parent who carries the gene. However, not all individuals with the genetic mutation will develop symptoms or have abnormal ECG findings.

Treatment for Brugada Syndrome typically involves implanting a cardioverter-defibrillator (ICD) to prevent sudden cardiac death. Medications such as quinidine or isoproterenol may also be used to reduce the risk of arrhythmias. Lifestyle modifications, such as avoiding alcohol and certain medications that can trigger arrhythmias, may also be recommended.

Ehlers-Danlos syndrome (EDS) is a group of inherited disorders that affect connective tissues, which are the proteins and chemicals in the body that provide structure and support for skin, bones, blood vessels, and other organs. People with EDS have stretching (elastic) skin and joints that are too loose (hypermobile). There are several types of EDS, each with its own set of symptoms and level of severity. Some of the more common types include:

* Classical EDS: This type is characterized by skin that can be stretched far beyond normal and bruises easily. Affected individuals may also have joints that dislocate easily.
* Hypermobile EDS: This type is marked by joint hypermobility, which can lead to frequent dislocations and subluxations (partial dislocations). Some people with this type of EDS also have Marfan syndrome-like features, such as long fingers and a curved spine.
* Vascular EDS: This type is caused by changes in the COL3A1 gene and is characterized by thin, fragile skin that tears or bruises easily. People with vascular EDS are at risk of serious complications, such as arterial rupture and organ perforation.
* Kyphoscoliosis EDS: This type is marked by severe kyphoscoliosis (a forward curvature of the spine) and joint laxity. Affected individuals may also have fragile skin that tears or bruises easily.

EDS is typically inherited in an autosomal dominant manner, meaning that a person only needs to inherit one copy of the altered gene from either parent to develop the condition. However, some types of EDS are inherited in an autosomal recessive manner, which means that a person must inherit two copies of the altered gene (one from each parent) to develop the condition.

There is no cure for EDS, and treatment is focused on managing symptoms and preventing complications. This may include physical therapy to strengthen muscles and improve joint stability, bracing to support joints, and surgery to repair damaged tissues or organs.

Respiratory Distress Syndrome, Adult (RDSa or ARDS), also known as Acute Respiratory Distress Syndrome, is a severe form of acute lung injury characterized by rapid onset of widespread inflammation in the lungs. This results in increased permeability of the alveolar-capillary membrane, pulmonary edema, and hypoxemia (low oxygen levels in the blood). The inflammation can be triggered by various direct or indirect insults to the lung, such as sepsis, pneumonia, trauma, or aspiration.

The hallmark of ARDS is the development of bilateral pulmonary infiltrates on chest X-ray, which can resemble pulmonary edema, but without evidence of increased left atrial pressure. The condition can progress rapidly and may require mechanical ventilation with positive end-expiratory pressure (PEEP) to maintain adequate oxygenation and prevent further lung injury.

The management of ARDS is primarily supportive, focusing on protecting the lungs from further injury, optimizing oxygenation, and providing adequate nutrition and treatment for any underlying conditions. The use of low tidal volumes and limiting plateau pressures during mechanical ventilation have been shown to improve outcomes in patients with ARDS.

Angelman Syndrome is a genetic disorder that affects the nervous system and is characterized by intellectual disability, developmental delay, lack of speech or limited speech, movement and balance disorders, and a happy, excitable demeanor. Individuals with Angelman Syndrome often have a distinctive facial appearance, including widely spaced teeth, a wide mouth, and protruding tongue. Seizures are also common in individuals with this condition.

The disorder is caused by the absence or malfunction of a gene called UBE3A, which is located on chromosome 15. In about 70% of cases, the deletion of a portion of chromosome 15 that includes the UBE3A gene is responsible for the syndrome. In other cases, mutations in the UBE3A gene or inheritance of two copies of chromosome 15 from the father (uniparental disomy) can cause the disorder.

There is no cure for Angelman Syndrome, but early intervention with physical therapy, speech therapy, and other supportive therapies can help improve outcomes. Anticonvulsant medications may be used to manage seizures. The prognosis for individuals with Angelman Syndrome varies, but most are able to live active, fulfilling lives with appropriate support and care.

I must clarify that the term "pedigree" is not typically used in medical definitions. Instead, it is often employed in genetics and breeding, where it refers to the recorded ancestry of an individual or a family, tracing the inheritance of specific traits or diseases. In human genetics, a pedigree can help illustrate the pattern of genetic inheritance in families over multiple generations. However, it is not a medical term with a specific clinical definition.

Severe Acute Respiratory Syndrome (SARS) is a viral respiratory illness characterized by fever, cough, shortness of breath, and sometimes severe pneumonia. It is caused by the SARS coronavirus (SARS-CoV).

The syndrome is considered severe due to its potential to cause rapid spread in communities and healthcare settings, and for its high case fatality rate. In the global outbreak of 2002-2003, approximately 8,000 people were infected and nearly 800 died. Since then, no large outbreaks have been reported, although there have been isolated cases linked to laboratory accidents or animal exposures.

SARS is transmitted through close contact with an infected person's respiratory droplets, such as when they cough or sneeze. It can also be spread by touching a surface contaminated with the virus and then touching the mouth, nose, or eyes. Healthcare workers and others in close contact with infected individuals are at higher risk of infection.

Preventive measures include good personal hygiene, such as frequent handwashing, wearing masks and other protective equipment when in close contact with infected individuals, and practicing respiratory etiquette (covering the mouth and nose when coughing or sneezing). Infected individuals should be isolated and receive appropriate medical care to help manage their symptoms and prevent transmission to others.

Restless Legs Syndrome (RLS) is a neurological disorder characterized by an irresistible urge to move one's body to stop uncomfortable or odd sensations. It most commonly affects the legs. The condition worsens during periods of rest, particularly when lying or sitting.

The symptoms typically include:

1. An uncontrollable need or urge to move the legs to relieve uncomfortable sensations such as crawling, creeping, tingling, pulling, or painful feelings.
2. Symptoms begin or intensify during rest or inactivity.
3. Symptoms are partially or totally relieved by movement, such as walking or stretching, at least as long as the activity continues.
4. Symptoms are worse in the evening or night, often leading to disturbed sleep.

The exact cause of RLS is unknown, but it may be related to abnormalities in the brain's dopamine pathways that control muscle movements. It can also be associated with certain medical conditions like iron deficiency, kidney disease, diabetes, and pregnancy. Treatment often involves addressing any underlying conditions and using medications to manage symptoms.

Job Syndrome is a rare primary immunodeficiency disorder, also known as Hyper-IgE Syndrome (HIES). It is characterized by the triad of recurrent staphylococcal skin abscesses, recurrent pulmonary infections, and elevated serum IgE levels.

The condition was first described in 1966 by Dr. Angelo A. Pedrioli et al., in a patient with eczema, recurrent staphylococcal abscesses, and severe lung infections, whose name was later used to describe the syndrome (Job's Syndrome).

The clinical features of Job Syndrome include:

1. Recurrent skin abscesses and boils, often on the face, neck, and upper extremities.
2. Cold-stimulated erythema (cold-induced urticaria) and recurrent herpes simplex infections.
3. Recurrent pulmonary infections, such as pneumonia, bronchitis, and lung abscesses.
4. High levels of IgE antibodies in the blood (hyper-IgE).
5. Characteristic facial features, including a broad nasal bridge, deep-set eyes, and prognathism (protruding jaw).
6. Scoliosis, joint hypermobility, and connective tissue abnormalities.
7. Increased susceptibility to fungal infections, such as candidiasis.
8. Bone fractures and osteopenia.

The genetic basis of Job Syndrome is a mutation in the STAT3 gene, which encodes a transcription factor that regulates immune responses, cell growth, and differentiation. The diagnosis of Job Syndrome is based on clinical criteria and laboratory tests, including IgE levels and genetic testing for STAT3 mutations.

Treatment of Job Syndrome includes antibiotics for bacterial infections, antifungal agents for fungal infections, and prophylactic antibiotics to prevent recurrent infections. In addition, immunoglobulin replacement therapy may be used to boost the patient's immune system.

Job Syndrome is a rare genetic disorder that affects multiple organ systems, including the immune system, bones, and connective tissue. Early diagnosis and treatment can improve outcomes and quality of life for affected individuals.

Wiskott-Aldrich Syndrome (WAS) is a rare X-linked recessive primary immunodeficiency disorder characterized by the triad of microthrombocytopenia, eczema, and recurrent infections. It is caused by mutations in the WAS gene, which encodes the Wiskott-Aldrich syndrome protein (WASp), a key regulator of actin cytoskeleton reorganization in hematopoietic cells.

The clinical features of WAS include:

1. Microthrombocytopenia: This is characterized by small platelet size and low platelet count, leading to an increased risk of bleeding.
2. Eczema: This is a chronic inflammatory skin disorder that can cause itching, redness, and scaly patches on the skin.
3. Recurrent infections: Patients with WAS are susceptible to bacterial, viral, and fungal infections due to impaired immune function.

Other clinical manifestations of WAS may include autoimmune disorders, lymphoma, and inflammatory bowel disease. The severity of the disease can vary widely among patients, ranging from mild to severe. Treatment options for WAS include hematopoietic stem cell transplantation (HSCT), gene therapy, and supportive care measures such as antibiotics, immunoglobulin replacement therapy, and platelet transfusions.

A mutation is a permanent change in the DNA sequence of an organism's genome. Mutations can occur spontaneously or be caused by environmental factors such as exposure to radiation, chemicals, or viruses. They may have various effects on the organism, ranging from benign to harmful, depending on where they occur and whether they alter the function of essential proteins. In some cases, mutations can increase an individual's susceptibility to certain diseases or disorders, while in others, they may confer a survival advantage. Mutations are the driving force behind evolution, as they introduce new genetic variability into populations, which can then be acted upon by natural selection.

Paraneoplastic syndromes refer to a group of rare disorders that are caused by an abnormal immune system response to a cancerous (malignant) tumor. These syndromes are characterized by symptoms or signs that do not result directly from the growth of the tumor itself, but rather from substances produced by the tumor or the body's immune system in response to the tumor.

Paraneoplastic syndromes can affect various organs and systems in the body, including the nervous system, endocrine system, skin, and joints. Examples of paraneoplastic syndromes include Lambert-Eaton myasthenic syndrome (LEMS), which affects nerve function and causes muscle weakness; cerebellar degeneration, which can cause difficulty with coordination and balance; and dermatomyositis, which is an inflammatory condition that affects the skin and muscles.

Paraneoplastic syndromes can occur in association with a variety of different types of cancer, including lung cancer, breast cancer, ovarian cancer, and lymphoma. Treatment typically involves addressing the underlying cancer, as well as managing the symptoms of the paraneoplastic syndrome.

Sweet syndrome, also known as acute febrile neutrophilic dermatosis, is a skin condition characterized by the rapid onset of painful, red, and swollen skin lesions. The lesions are often accompanied by fever and elevated white blood cell count, particularly an increase in neutrophils.

The medical definition of Sweet syndrome includes the following criteria:

1. Abrupt onset of painful, erythematous (red), and edematous (swollen) papules, plaques, or nodules.
2. Fever greater than 38°C (100.4°F).
3. Leukocytosis with a predominance of neutrophils in the peripheral blood.
4. Histopathological evidence of a dense dermal infiltrate of neutrophils without evidence of vasculitis.
5. Rapid response to systemic corticosteroids.

Sweet syndrome can be associated with various medical conditions, such as infections, malignancies, and inflammatory diseases, or it can occur without an identifiable underlying cause (idiopathic).

Acquired Immunodeficiency Syndrome (AIDS) is a chronic, life-threatening condition caused by the Human Immunodeficiency Virus (HIV). AIDS is the most advanced stage of HIV infection, characterized by the significant weakening of the immune system, making the person more susceptible to various opportunistic infections and cancers.

The medical definition of AIDS includes specific criteria based on CD4+ T-cell count or the presence of certain opportunistic infections and diseases. According to the Centers for Disease Control and Prevention (CDC), a person with HIV is diagnosed with AIDS when:

1. The CD4+ T-cell count falls below 200 cells per cubic millimeter of blood (mm3) - a normal range is typically between 500 and 1,600 cells/mm3.
2. They develop one or more opportunistic infections or cancers that are indicative of advanced HIV disease, regardless of their CD4+ T-cell count.

Some examples of these opportunistic infections and cancers include:

* Pneumocystis pneumonia (PCP)
* Candidiasis (thrush) affecting the esophagus, trachea, or lungs
* Cryptococcal meningitis
* Toxoplasmosis of the brain
* Cytomegalovirus disease
* Kaposi's sarcoma
* Non-Hodgkin's lymphoma
* Invasive cervical cancer

It is important to note that with appropriate antiretroviral therapy (ART), people living with HIV can maintain their CD4+ T-cell counts, suppress viral replication, and prevent the progression to AIDS. Early diagnosis and consistent treatment are crucial for managing HIV and improving life expectancy and quality of life.

Intellectual disability (ID) is a term used when there are significant limitations in both intellectual functioning and adaptive behavior, which covers many everyday social and practical skills. This disability originates before the age of 18.

Intellectual functioning, also known as intelligence, refers to general mental capacity, such as learning, reasoning, problem-solving, and other cognitive skills. Adaptive behavior includes skills needed for day-to-day life, such as communication, self-care, social skills, safety judgement, and basic academic skills.

Intellectual disability is characterized by below-average intelligence or mental ability and a lack of skills necessary for day-to-day living. It can be mild, moderate, severe, or profound, depending on the degree of limitation in intellectual functioning and adaptive behavior.

It's important to note that people with intellectual disabilities have unique strengths and limitations, just like everyone else. With appropriate support and education, they can lead fulfilling lives and contribute to their communities in many ways.

Churg-Strauss syndrome (CSS), also known as eosinophilic granulomatosis with polyangiitis (EGPA), is a rare autoimmune disorder characterized by inflammation of small- to medium-sized blood vessels (vasculitis) and the presence of eosinophils, a type of white blood cell. The syndrome typically affects multiple organ systems, including the respiratory tract, peripheral nerves, skin, heart, and kidneys.

The classic triad of symptoms includes asthma, allergies, and peripheral blood eosinophilia (high levels of eosinophils in the blood). Other common features include sinusitis, rhinitis, cough, shortness of breath, skin rashes, neuropathy (nerve damage), and cardiac involvement.

The exact cause of Churg-Strauss syndrome is not well understood, but it is believed to involve an abnormal immune response in genetically susceptible individuals. Treatment typically involves the use of immunosuppressive medications to control inflammation and prevent organ damage. Corticosteroids are often used as a first-line therapy, while other agents such as cyclophosphamide or rituximab may be added for more severe cases.

Sturge-Weber syndrome is a rare neurocutaneous disorder characterized by the combination of a facial port-wine birthmark and neurological abnormalities. The facial birthmark, which is typically located on one side of the face, occurs due to the malformation of small blood vessels (capillaries) in the skin and eye.

Neurological features often include seizures that begin in infancy, muscle weakness or paralysis on one side of the body (hemiparesis), developmental delay, and intellectual disability. These neurological symptoms are caused by abnormal blood vessel formation in the brain (leptomeningeal angiomatosis) leading to increased pressure, reduced blood flow, and potential damage to the brain tissue.

Sturge-Weber syndrome can also affect the eyes, with glaucoma being a common occurrence due to increased pressure within the eye. Early diagnosis and appropriate management of this condition are crucial for improving the quality of life and reducing potential complications.

"Klippel-Feil syndrome". Genetics Home Reference. U.S. National Library of Medicine. Retrieved 2018-08-18. "Klippel-Feil ... Klippel-Feil syndrome (KFS), also known as cervical vertebral fusion syndrome, is a rare congenital condition characterized by ... Online Mendelian Inheritance in Man (OMIM): Klippel-Feil Syndrome 1, Autosomal Dominant; KFS1 - 118100 "Segmentation syndrome 1 ... André Feil's thesis on the origin of the Klippel-Feil syndrome and a social transformation of medicine". Neurosurgical Focus. ...
Klippel-Feil syndrome. The sacrum is a normal block vertebra.[citation needed] Evidence for block vertebrae found in the fossil ... Gorlin syndrome, fetal pyelectasis 3, Jarcho-Levin syndrome, OEIS complex, VACTERL association. The probable cause of ... It can lead to an abnormal angle in the spine, there are certain syndromes associated with block vertebrae; for example, ... Back pain associated with lumbosacral transitional vertebrae (LSTV) is known as Bertolotti's syndrome. One study found that ...
Did Tutankhamun have Klippel-Feil syndrome? Did Alfred the Great have Crohn's disease? Did botulism cause the religious visions ... Otaiku AI (April 2018). "Did René Descartes Have Exploding Head Syndrome?". Journal of Clinical Sleep Medicine. 14 (4): 675-8. ... Sacks O (2001). "Henry Cavendish: an early case of Asperger's syndrome?". Neurology. 57 (7): 1347. doi:10.1212/wnl.57.7.1347. ... Henry Cavendish: An early case of Asperger's syndrome? Archived 1 September 2007 at the Wayback Machine Neurological Foundation ...
An example is Klippel-Feil syndrome.[citation needed] Although present at birth, some only become obvious postnatally. " ...
Mutations in the human gene may contribute to the condition of Klippel-Feil syndrome, which is the failure of the vertebrae to ... McGaughran JM, Oates A, Donnai D, Read AP, Tassabehji M (2003). "Mutations in PAX1 may be associated with Klippel-Feil syndrome ... 2004). "Mutations in PAX1 may be associated with Klippel-Feil syndrome". Eur. J. Hum. Genet. 11 (6): 468-74. doi:10.1038/sj. ... 2004). "Aberrant Pax1 and Pax9 expression in Jarcho-Levin syndrome: report of two Caucasian siblings and literature review". Am ...
... is commonly seen in people with Klippel-Feil syndrome. Yochum, Terry R. (2004). essentials of skeletal radiology ... Syndromes, All stub articles, Musculoskeletal system stubs, Disease stubs, Human reproduction stubs). ...
The mutation in these genes can result in Klippel-Feil syndrome. As a result of having congenital Klippel-Feil syndrome, the ... Cervicocranial syndrome or (Craniocervical Junction Syndrome: CCJ syndrome) is a neurological illness. It is a combination of ... Some examples of diseases that could result in cervicocranial syndrome are Chiari disease, Klippel-Feil malformation ... "Surgical Treatment of Occipitocervical Dislocation with Atlas Assimilation and Klippel-Feil Syndrome Using Occipitalized C1 ...
Small has Klippel-Feil syndrome, a genetic condition of the neck. Small was born in Barbados, and moved to England shortly ... Small has Klippel-Feil syndrome, a rare congenital condition whereby the vertebrae in the neck are fused. His life story was ...
Examples include craniofacial dysostosis, Klippel-Feil syndrome, and Rubinstein-Taybi syndrome. It is one of the two categories ...
2008). "Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome". Hum. Mutat. 29 (8): ...
It may be indicated to perform a genetic analysis, as the deformity may occur under other conditions (see Klippel-Feil syndrome ... The deformity is associated with the following conditions:- Klippel-Feil syndrome (most common) congenital scoliosis, ... There is a high correlation between Sprengel's deformity and Klippel-Feil syndrome.[citation needed] Diagnosis is clinical and ...
It is a feature of Turner syndrome (only found in girls) and Noonan syndrome, as well as the rarer Klippel-Feil syndrome, or ... "Modified Z-plasty repair of webbed neck deformity seen in Turner and Klippel-Feil syndrome". Cleft Palate Craniofac. J. 39 (3 ... Miller LB, Kanter M, Wolfort F (1990). "Treatment of webbed neck in Turner's syndrome with tissue expansion". Ann Plast Surg. ... Qian JG, Wang XJ (2007). "Noonan syndrome and correction of the webbed neck". Journal of Plastic, Reconstructive & Aesthetic ...
Kieffer, C. L. (2017). "Sacrifice of the Social Outcasts: Two Cases of Klippel-Feil Syndrome at Midnight Terror Cave, Belize". ...
Another, though rare, congenital disease is Klippel-Feil syndrome, which is the fusion of any two of the cervical vertebrae. ...
Also, VACTERL association can be linked to other similar conditions such as Klippel Feil and Goldenhar syndrome including ... Baller-Gerold syndrome CHARGE syndrome Currarino syndrome DiGeorge syndrome Fanconi anemia Feingold syndrome Fryns syndrome ... Oculo-auriculo-vertebral syndrome Opitz G/BBB syndrome Holt-Oram syndrome Pallister-Hall syndrome Townes-Brocks syndrome ... syndrome Absent radius CHARGE Association Holt-Oram syndrome Feingold syndrome Pallister-Hall syndrome Townes-Brocks syndrome ...
TCS may also be related to Ehlers-Danlos syndrome, or Klippel-Feil syndrome, which should also be screened for upon a positive ... Kyphosis Scoliosis Brain herniation Spina Bifida Ehlers-Danlos syndrome Klippel-Feil syndrome Syringomyelia Tethered spinal ... "Tethered spinal cord syndrome". Answers.com.[unreliable medical source?] "Facts on Tethered Cord Syndrome". Spinabifida. ... Tethered cord syndrome (TCS) refers to a group of neurological disorders that relate to malformations of the spinal cord. ...
... (30 May 1858 - 20 July 1942) was a French physician, for whom the conditions Klippel-Feil syndrome and Klippel- ... Trénaunay-Weber syndrome are named. He was born in Mulhouse, Haut-Rhin and studied medicine in Paris, earning his doctorate in ... Maurice Klippel - bibliography at Who Named It doctor/622 at Who Named It? v t e (Articles with short description, Short ...
... which could be associated with Klippel-Feil syndrome, a rare congenital scoliotic disorder. His physical deformities and ... Some have speculated that he suffered from Guillain-Barré syndrome, which typhoid fever can lead to when complicated with other ... Another theory moves away from disease and hypothesizes that Alexander's death was related to a congenital scoliotic syndrome. ... Hall, Katherine (2018). "Did Alexander the Great Die from Guillain-Barré Syndrome?". Ancient History Bulletin. 32 (3-4). Robert ...
... can be associated with other problems including cervical spine abnormalities Klippel-Feil syndrome, Goldenhar ... eye retraction syndrome, retraction syndrome, congenital retraction syndrome and Stilling-Türk-Duane syndrome. The ... Around 10-20% of cases are familial; these are more likely to be bilateral than non-familial Duane syndrome. Duane syndrome has ... Duane syndrome is most probably a miswiring of the eye muscles, causing some eye muscles to contract when they shouldn't and ...
Klippel-Feil Syndrome Dystonia Cerebral palsy Parkinson's disease Epilepsies Amyotrophic lateral sclerosis Kallman's syndrome ... Alien hand syndrome Obsessive compulsive disorder Schizophrenia Congenital hemiplegia Moebius syndrome Seckel syndrome ... Wildervanck syndrome Polymicrogyria The specific molecular mechanism that underpins this movement disorder is not well known. ...
French physician Klippel-Feil syndrome Klippel-Trénaunay-Weber syndrome Robert Klippel (1920-2001), Australian constructivist ... Klippel is a German surname. Notable people with the surname include: Maurice Klippel (1858-1942), ... sculptor and teacher Christoph Klippel (born 1986), German footballer This page lists people with the surname Klippel. If an ...
Hereditary multiple exostoses Klippel-Feil syndrome Metabolic bone disease Multiple myeloma Nail-patella syndrome Osteitis ... Ambe Avascular necrosis or Osteonecrosis Arthritis Bone spur (Osteophytes) Craniosynostosis Coffin-Lowry syndrome Copenhagen ... disease Fibrodysplasia ossificans progressiva Fibrous dysplasia Fong disease (or Nail-patella syndrome) Fracture Giant cell ...
15 Joubert syndrome Karak syndrome Kearns-Sayre syndrome Kinsbourne syndrome Kleine-Levin syndrome Klippel Feil syndrome Krabbe ... Febrile seizures Fisher syndrome Fibromyalgia Foville's syndrome Fragile X syndrome Fragile X-associated tremor/ataxia syndrome ... syndrome Shingles Shy-Drager syndrome Sjögren's syndrome Sleep apnea Sleeping sickness Slurred speech Snatiation Sotos syndrome ... syndrome Rhythmic movement disorder Romberg syndrome Savant syndrome Saint Vitus dance Sandhoff disease Sanfilippo syndrome ...
... an American print syndication company Klippel-Feil syndrome, a rare congenital condition Knives, Forks and Spoons Press, a ...
... or cervico-oculo-acoustic syndrome comprises a triad of: Duane syndrome Klippel-Feil anomaly (fused ... "Orphanet: Wildervanck syndrome". www.orpha.net. Retrieved 28 April 2019. "OMIM Entry-314600 - WILDERVANCK SYNDROME". " ... ISBN 978-1-4160-2999-1. Mehta, B; Nayak, C; Savant, S; Amladi, S (2007). "Goldenhar syndrome with unusual features". Indian ... v t e (Articles with short description, Short description is different from Wikidata, Syndromes affecting hearing, Medical ...
... orofaciodigital syndrome 1, Ellis-Van Creveld syndrome, Goldenhar syndrome, and Klippel-Feil syndrome. Deliberate tongue ... A rare feature associated with infants of diabetic mother syndrome. American Journal of Medical Genetics, Part A, 143(17), 2035 ... "Delineation and Diagnostic Criteria of Oral-Facial-Digital Syndrome Type VI". Orphanet Journal of Rare Diseases. 7: 4. doi: ...
Down syndrome, Klippel-Feil syndrome, juvenile idiopathic arthritis, Larsen syndrome, Marfan syndrome, osteogenesis imperfecta ... such as Marfan syndrome and Ehlers-Danlos syndrome types I-III, VII, and XI), the joint laxity usually is apparent before ... However, age of onset and extent of joint laxity are variable in Marfan syndrome, and joint laxity may be confined to the hands ... However, if there is widespread laxity of other connective tissue, then this may be a sign of Ehlers-Danlos syndrome, ...
... syndrome Kindler syndrome King-Kopetzky syndrome Kleine-Levin syndrome Klinefelter syndrome Klippel-Feil syndrome Klippel- ... syndrome Wende-Bauckus syndrome Werner syndrome Wernicke-Korsakoff syndrome West syndrome Westerhof syndrome Wet lung syndrome ... syndrome Shone's syndrome Short anagen syndrome Short bowel syndrome short limb syndrome Short man syndrome Short QT syndrome ... syndrome Radial tunnel syndrome Rage syndrome Raghib syndrome Raine syndrome Ramos-Arroyo syndrome Ramsay Hunt syndrome type 1 ...
Klippel-Feil syndrome MeSH C05.116.099.370.652 - orofaciodigital syndromes MeSH C05.116.099.370.797 - Rubinstein-Taybi syndrome ... Hajdu-Cheney syndrome MeSH C05.116.099.105 - basal-cell nevus syndrome MeSH C05.116.099.343 - dwarfism MeSH C05.116.099.343.110 ... Felty's syndrome MeSH C05.550.114.154.683 - rheumatoid nodule MeSH C05.550.114.154.774 - Sjögren syndrome MeSH C05.550.114.154. ... short rib-polydactyly syndrome MeSH C05.660.585.620 - proteus syndrome MeSH C05.660.585.800 - syndactyly MeSH C05.660.585.800. ...
PIK3CA Keutel syndrome; 245150; MGP Kindler syndrome; 173650; KIND1 Kleefstra syndrome; 610253; EHMT1 Klippel-Feil syndrome, ... AKAP9 Long QT syndrome-3; 603830; SCN5A Long QT syndrome-4; 600919; ANK2 Long QT syndrome-7; 170390; KCNJ2 Long QT syndrome-9; ... TGFBR2 Long QT syndrome 12; 612955; SNT1 Long QT syndrome 13; 613485; KCNJ5 Long QT syndrome-1; 192500; KCNQ1 Long QT syndrome- ... KRAS Noonan syndrome 4; 610733; SOS1 Noonan syndrome 5; 611553; RAF1 Noonan syndrome 6; 613224; NRAS Noonan-like syndrome with ...
"Klippel-Feil syndrome". Genetics Home Reference. U.S. National Library of Medicine. Retrieved 2018-08-18. "Klippel-Feil ... Klippel-Feil syndrome (KFS), also known as cervical vertebral fusion syndrome, is a rare congenital condition characterized by ... Online Mendelian Inheritance in Man (OMIM): Klippel-Feil Syndrome 1, Autosomal Dominant; KFS1 - 118100 "Segmentation syndrome 1 ... André Feils thesis on the origin of the Klippel-Feil syndrome and a social transformation of medicine". Neurosurgical Focus. ...
Maurice Klippel and Andre Feil independently provided the first descriptions of Klippel-Feil syndrome. They described patients ... encoded search term (Klippel-Feil Syndrome) and Klippel-Feil Syndrome What to Read Next on Medscape ... Klippel-Feil syndrome (KFS; also referred to as cervical vertebral fusion syndrome) is a congenital bone disorder characterized ... The syndrome can present with a variety of other clinical syndromes, including fetal alcohol syndrome, Goldenhar syndrome, and ...
Klippel-Feil syndrome is a rare disorder, initially reported in 1912 by Maurice Klippel and Andre Feil from France,[1] ... A classification scheme for Klippel-Feil syndrome was proposed in 1919 by Andre Feil, which accounted for cervical, thoracic, ... Treatment for Klippel-Feil syndrome is symptomatic and may include surgery to relieve cervical or craniocervical instability ... The 18th Dynasty Egyptian pharaoh Tutankhamun is believed by some to have suffered from Klippel-Feil syndrome[4], though others ...
Klippel Feil Syndrome , Klippel Feil syndrome CHORUS ... Klippel Feil syndrome CHORUS. Visit Resource Review It Rate It ... OCOSH Classification: Bone Diseases: Bone Developmental Diseases: Dysostoses: Klippel Feil Syndrome. *- OCOSH Classification: ...
Klippel Feil syndrome is a syndrome that leads to fusion of at least 2 of the seven vertebrae is the cervical spine. This ... What is Klippel Feil Syndrome?. Klippel Feil syndrome is a syndrome that leads to a fusion of at least 2 of the seven vertebrae ... What are other features associated with Klippel-Feil Syndrome?. Other common defects associated with Klippel-Feil syndrome are ... klippel-feil-syndrome&url=klippel-feil-syndrome-patient-education 2015-08-01 2015-08-01 ...
Klippel-Feil syndrome Klippel-Feil syndrome Schlüsselwörter Klippel-Feil syndrome; ICD 10: Q76.1; Cervical vertebral fusion, ... isolated Klippel-Feil syndrome, KFS. Keywords Klippel-Feil syndrome; ICD 10: Q76.1; Cervical vertebral fusion, congenital ... Mutations in MEOX 1 have been found to occur in association with Klippel-Feil syndrome [3]. ... the classic clinical triad which is the hallmark of Klippel-Feil syndrome (KFS). It is estimated to occur in 1 in 40,000 to ...
syndrome • Klippel-Feil syndrome with sprengel deformity - Ganzer Fall bei Radiopaedia El-Feky, M. Klippel-Feil syndrome with ... syndrome • Klippel-Feil syndrome - Ganzer Fall bei Radiopaedia Haouimi, A. Klippel-Feil syndrome. Case study, Radiopaedia.org ... syndrome • Klippel-Feil syndrome - Ganzer Fall bei Radiopaedia Marghany, B. Klippel-Feil syndrome. Case study, Radiopaedia.org ... syndrome • Klippel feil syndrome - Ganzer Fall bei Radiopaedia Hartung, M. Klippel feil syndrome. Case study, Radiopaedia.org ...
KFS has often been considered a sporadic syndrome. However, since the publication of the original KFS classification early this ... Klippel-Feil syndrome (KFS) is characterised by congenital vertebral fusion of the cervical spine and a wide spectrum of ... Klippel-Feil syndrome (KFS) is characterised by congenital vertebral fusion of the cervical spine and a wide spectrum of ... KFS has often been considered a sporadic syndrome. However, since the publication of the original KFS classification early this ...
Get natural cures for Klippel-Feil syndrome that can make a difference in your life or the life of someone you love with ... Klippel-Feil syndrome by state. Klippel-Feil syndrome in Alabama. Klippel-Feil syndrome in Alaska. Klippel-Feil syndrome in ... Klippel-Feil syndrome in Iowa. Klippel-Feil syndrome in Kansas. Klippel-Feil syndrome in Kentucky. Klippel-Feil syndrome in ... Klippel-Feil syndrome in North Dakota. Klippel-Feil syndrome in Ohio. Klippel-Feil syndrome in Oklahoma. Klippel-Feil syndrome ...
I was born with a rare disease called Klippel Feil syndrome and severe pulmonary hypertension. I need to use oxygen 24 hours a ... Artist with Klippel Feil syndrome & Scoliosis. February 06 2019 10:45 AM ...
50-The success of direct laryngoscopy in children with Klippel-Feil Syndrome..pdf (445.5 KB). ... BAKAN M., UMUTOGLU T., Zengin S., TOPUZ U., -The success of direct laryngoscopy in children with Klippel-Feil Syndrome.-, ...
Klippel-Feil Syndrome (National Institute of Neurological Disorders and Stroke) Patient Handouts ...
... significance of considering Chiari 1 malformation as a potential comorbidity in patients diagnosed with Klippel-Feil Syndrome ... The syndrome presents with diverse symptoms, including limited neck movement, chronic pain, and neurological manifestations ... Surgical interventions are often necessary for patients with complex forms of the syndrome. Interestingly, Chiari 1 ... Klippel-Feil Syndrome (KFS) is a rare genetic disorder characterized by the abnormal development of the cervical spine, leading ...
Klippel Feil Syndrome. *Larsons Disease. *Morquio syndrome. *Neurofibromatosis 1. *Os Odontoideum. Meet the Team. Orthopaedics ... The Cervical Spine Clinic team cares for children with spine conditions related to syndromes. We have experience treating both ...
... by ... Can you be how equal aprons in download the official parents sourcebook on klippel feil syndrome a revised and updated ... It is an Non-Medical Polish download the official parents sourcebook on klippel feil syndrome a revised and updated directory ... A many few download the official parents sourcebook on klippel feil syndrome a revised and updated directory for the internet ...
Crouzon Syndrome Crouzon syndrome was first described in 1912. Inheritance Inheritance is autosomal dominant with virtually ... Klippel-Feil and Turner Syndromes. Klippel-Feil Syndrome. This condition has 3 radiologic types. The first is characterized by ... The natural history of Klippel-Feil syndrome: clinical, roentgenographic, and magnetic resonance imaging findings at adulthood ... An analysis of the Klippel-Feil syndrome. Arch Path. 1946. 41:269. ...
Coexistence of klippel feil syndrome, Poland syndrome and mirror movements: A genetic case study Klippel feil sendromu, Poland ... All rights reserved.Coexistence of Klippel Feil syndrome, Poland syndrome and mirror movements have not been reported before. ...
Klippel-Feil syndrome (KFS) is defined by multiple abnormal segments of the cervical spine with congenital synostosis of two or ... Background: Klippel-Feil syndrome (KFS) is defined by multiple abnormal segments of the cervical spine with congenital ... Abstract Background: Klippel-Feil syndrome (KFS) is defined by multiple abnormal segments of the cervical spine with congenital ... Two-Level Cervical Disc Arthroplasty In Patients With Klippel-Feil Syndrome: A Case Report And Review Of The Literature London ...
The prevalence of Klippel-Feil syndrome in pediatric patients: analysis of 831 CT scans.﻽. Moses JT, Williams DM, Rubery PT, ... The Prevalence of Klippel-Feil Syndrome: A Computed Tomography-Based Analysis of 2,917 Patients.﻽. Gruber J, Saleh A, Bakhsh W ... The Prevalence of Klippel-Feil Syndrome: A Computed Tomography-Based Analysis of 2,917 Patients.﻽. Gruber J, Saleh A, Bakhsh W ... Klippel-Feil Syndrome: Clinical Presentation and Management.﻽. Jae-Min Park A, Nelson SE, Mesfin A ...
Klippel-Feil Syndrome (KFS): Causes, Symptoms, and Treatment. Klippel Feil syndrome (KFS) is a congenital condition involving ... Central cord syndrome is a spinal cord injury that commonly happens after a fall or car accident. Learn the symptoms and your ...
Klippel-Feil Syndrome (KFS): Causes, Symptoms, and Treatment. Klippel Feil syndrome (KFS) is a congenital condition involving ... Central cord syndrome is a spinal cord injury that commonly happens after a fall or car accident. Learn the symptoms and your ...
My Story: I was born with Klippel-Feil Syndrome, and Life has Become a Huge Pain in the Neck. Emily Lemiska ...
Klippel-Feil Syndrome We have a number of KFS families . Please contact me if you have an interest in the genetics of Klippel- ... Feil. Contact: [email protected] Dr Raymond Clarke. St George Hospital. [email protected]. ...
Congenital syndromes with spinal disorders include:. *Down syndrome. *Klippel-Feil syndrome-fusion of any two vertebrae in the ...
Rudman has a congenital disorder called Klippel Feil Syndrome, that causes severe pain. She said she left a few messages but ... Rudman is 29, lives in Boulder and has Klippel Feil Syndrome, a congenital defect that has resulted in severe chronic pain. ...
Cervical vertebral fusion (Klippel-Feil) syndrome with consanguineous parents. (1 June, 1976) R C Juberg, J J Gershanik ... Pseudohermaphroditism due to XY gonadal absence syndrome. (1 June, 1976) S K Alfaro, D Saavedra, S Ochoa, H Scaglia, G Pérez- ... Partial trisomy 9 with resemblance to Coffin-Siris syndrome. (1 June, 1976) T Kushnick, G M Adessa ... Supravalvular aortic stenosis-infantile hypercalcaemia syndrome: in vitro hypersensitivity to vitamin D2 and calcium. (1 June, ...
Klippel feil syndrome. - opthalmologic dz that may require child to tilt head to see normally;. - superior oblique palsy of the ...
He also revealed he has KFS, Klippel-Feil syndrome, which is a rare skeletal disorder. Ed said he had multiple birth anomalies ...
KLIPPEL-FEIL SYNDROME WITH RADICULOPATHY, CHIROPRACTIC MANAGEMENT UTILIZING FLEXION-DISTRACTION TECHNIQUE: A CASE REPORT * ... Failed back surgical syndrome - L1-2 and L5-S1 disc herniations following L4- S1 spinal fusion: A case report [case report] * ...
  • citation needed] In 1912, Maurice Klippel and Andre Feil independently provided the first descriptions of KFS. (wikipedia.org)
  • This rare disorder was first accounted by Maurice Klippel and Andre Feil from France in the year 1912. (naturalcurefor.com)
  • Klippel-Feil syndrome (KFS), also known as cervical vertebral fusion syndrome, is a rare congenital condition characterized by the abnormal fusion of any two of the seven bones in the neck (cervical vertebrae). (wikipedia.org)
  • also referred to as cervical vertebral fusion syndrome) is a congenital bone disorder characterized by the abnormal fusion of two or more of the cervical vertebrae. (medscape.com)
  • [ 7 ] Medical therapy for KFS depends on the congenital anomalies present in the syndrome. (medscape.com)
  • Klippel-Feil syndrome (KFS) is characterised by congenital vertebral fusion of the cervical spine and a wide spectrum of associated anomalies. (edu.au)
  • Klippel-Feil Syndrome is a rare medical condition described as the congenital fusion of any two (2) of the seven (7) vertebrae located in the neck. (naturalcurefor.com)
  • Klippel-Feil syndrome (KFS) is defined by multiple abnormal segments of the cervical spine with congenital synostosis of two or more cervical vertebrae. (londonspine.com)
  • Rudman has a congenital disorder called Klippel Feil Syndrome, that causes severe pain. (cpr.org)
  • Klippel-Feil syndrome (KPS) is characterized by congenital vertebral fusion believed to result from faulty segmentation along the embryo's developing axis. (archive.org)
  • Duane syndrome (DS) is a rare, congenital eye movement disorder most commonly characterized by the inability of the eye to turn out. (bionity.com)
  • Other names for this condition include: Duane's Retraction Syndrome (or DR syndrome), Eye Retraction Syndrome, Retraction Syndrome, Congenital retraction syndrome and Stilling-Turk-Duane Syndrome. (bionity.com)
  • In 1912, Klippel and Feil [1] first reported on a patient with a short neck, a low posterior hairline, and severe restriction of neck movements due to complete fusion of the cervical spine, the classic clinical triad which is the hallmark of Klippel-Feil syndrome (KFS). (ai-online.info)
  • Crouzon syndrome was first described in 1912. (medscape.com)
  • citation needed] Associated abnormalities may include: Scoliosis (sideways curvature of the spine) Spina bifida Problems with the kidneys and the ribs Cleft palate Dental problems (delayed dentition, cavities, missing teeth) Respiratory problems Heart defects Short stature Duane syndrome Srb's anomaly Sprengel's deformity The disorder also may be associated with abnormalities of the head and face, skeleton, sex organs, muscles, brain and spinal cord, arms, legs and fingers. (wikipedia.org)
  • Treatment for Klippel-Feil syndrome is symptomatic and may include surgery to relieve cervical or craniocervical instability and constriction of the spinal cord, and to correct scoliosis. (wikidoc.org)
  • Other common defects associated with Klippel-Feil syndrome are scoliosis (curved spine), kidney defects, deafness, rib defects, hole in palate or lip (cleft palate/cleft lip), and heart defects. (pediatriconcall.com)
  • I am an artist from Mexico with Scoliosis & Klippel Feil syndrome. (yoocanfind.com)
  • Klippel-Feil syndrome is a complex heterogeneous entity that results in cervical vertebral fusion. (pacs.de)
  • Cervical vertebral fusion (Klippel-Feil) syndrome with consanguineous parents. (bmj.com)
  • A syndrome characterised by a low hairline and a shortened neck resulting from a reduced number of vertebrae or the fusion of multiple hemivertebrae into one osseous mass. (lookformedical.com)
  • Ed was born with a rare skeletal disorder known as Klippel-Feil syndrome , which means his neck is unusually short due to an abnormal fusion of his vertebrae. (monstersandcritics.com)
  • Please contact me if you have an interest in the genetics of Klippel-Feil. (hum-molgen.org)
  • Classification of congenitally fused cervical patterns in Klippel-Feil patients: epidemiology and role in the development of cervical spine-related symptoms. (wikidoc.org)
  • Klippel-Feil Syndrome is caused by a failure in the normal partition of the vertebrae in the neck during the early fetal development weeks. (naturalcurefor.com)
  • The syndrome presents with diverse symptoms, including limited neck movement, chronic pain, and neurological manifestations such as limb numbness or weakness. (agrijournals.ir)
  • This case highlights the significance of considering Chiari 1 malformation as a potential comorbidity in patients diagnosed with Klippel-Feil Syndrome who present with persistent neck pain. (agrijournals.ir)
  • In a case of a 34 year old woman with months of unremitting neck, shoulder and arm pain with a Klippel-Feil syndrome, Cox Technic protocols offered relief at the first visit and complete resolution of pain over 8 treatments in 2 months. (docshay.com)
  • In 1919, in his Doctor of Philosophy thesis, André Feil suggested another classification of the syndrome, encompassing not only deformation of the cervical spine, but also deformation of the lumbar and thoracic spine. (wikipedia.org)
  • A classification scheme for KFS was proposed in 1919 by Andre Feil, which accounted for cervical, thoracic, and lumbar spine malformations. (wikipedia.org)
  • However, in 2006, Dino Samartzis and colleagues proposed three classification-types that specifically addressed the cervical spine anomalies and their associated cervical spine-related symptoms, with additional elaboration on various time-dependent factors regarding this syndrome. (wikipedia.org)
  • Klippel Feil syndrome is a syndrome that leads to a fusion of at least 2 of the seven vertebrae in the cervical spine. (pediatriconcall.com)
  • Klippel-Feil Syndrome (KFS) is a rare genetic disorder characterized by the abnormal development of the cervical spine, leading to the fusion of two or more cervical vertebrae. (agrijournals.ir)
  • The Cervical Spine Clinic team cares for children with spine conditions related to syndromes. (cincinnatichildrens.org)
  • Focusing in cervical spine, Dr. Cox will show flexion distraction care of conditions like headache, degenerative disc disease, Klippel Feil syndrome, nutrition, mechanisms of anular failure, and multifidees muscles will be shared this time. (coxtechnic.com)
  • The syndrome is difficult to diagnose, as it occurs in a group of patients affected with many different abnormalities who can only be unified by the presence of fused or segmental cervical vertebrae. (wikipedia.org)
  • The challenge to the clinician is to recognize the associated anomalies that can occur with this syndrome and to perform the appropriate workup for diagnosis. (medscape.com)
  • Anomalies associated with the syndrome can be fatal if not treated, or if found too late to be treatable. (wikidoc.org)
  • Most cases of Klippel-Feil are sporadic. (ai-online.info)
  • KFS has often been considered a sporadic syndrome. (edu.au)
  • I was born with a rare disease called Klippel Feil syndrome and severe pulmonary hypertension. (yoocanfind.com)
  • Accelerated loss of sensation, and the stool of patients experience stressors such as pulmonary and systemic syndromes. (albionfoundation.org)
  • What complications can occur with Klippel Feil Syndrome? (pediatriconcall.com)
  • Mutations in MEOX 1 have been found to occur in association with Klippel-Feil syndrome [3]. (ai-online.info)
  • Feil subsequently classified the syndrome into 3 categories:[citation needed] Type I-Fusion of C2 and C3 with occipitalization of the atlas. (wikipedia.org)
  • Note disproportionately short stature with mesomelic shortening and deformities of forearms and legs (in mesomelic dysplasia) and short forearms with Madelung-type deformity (in Leri-Weill syndrome). (medscape.com)
  • The treatment for Klippel-Feil Syndrome is only based on the symptoms that are manifested. (naturalcurefor.com)
  • Typical appearance of a patient with Crouzon syndrome, with maxillary retrusion, exorbitism, and pseudoprognathism. (medscape.com)
  • Syndrome with associated meningocoele and Sprengel deformity. (pacs.de)
  • Overall, the deformity is worse than that of Crouzon syndrome. (medscape.com)
  • The disease was initially reported in 1884 by Maurice Klippel and André Feil from France. (wikipedia.org)
  • Brother and sister with mesomelic dysplasia (homozygous dyschondrosteosis gene) and a woman with Leri-Weill syndrome. (medscape.com)
  • An individual diagnosed with Duane syndrome in the left eye. (bionity.com)
  • Pseudohermaphroditism due to XY gonadal absence syndrome. (bmj.com)
  • Imaging and other tests are not generally ordered unless progressive neurological deficit or cauda equina syndrome is present or appears during the course of care. (docshay.com)
  • The success of direct laryngoscopy in children with Klippel-Feil Syndrome. (bezmialem.edu.tr)
  • BAKAN M., UMUTOGLU T., Zengin S., TOPUZ U., -The success of direct laryngoscopy in children with Klippel-Feil Syndrome. (bezmialem.edu.tr)
  • A study by Forte et al found that in both Crouzon and Apert syndrome, the bony orbit is shortened, orbital and orbital soft-tissue volumes are reduced, and the globe's volume is increased. (medscape.com)
  • Infant with Beemer-type (left) and an infant with Majewski-type (right) short-rib syndrome (SRS). (medscape.com)
  • Surgical interventions are often necessary for patients with complex forms of the syndrome. (agrijournals.ir)
  • The upper dental arch in Crouzon syndrome is narrowed and retruded, which results in a class III malocclusion. (medscape.com)