A genetically heterogeneous, multifaceted disorder characterized by short stature, webbed neck, ptosis, skeletal malformations, hypertelorism, hormonal imbalance, CRYPTORCHIDISM, multiple cardiac abnormalities (most commonly including PULMONARY VALVE STENOSIS), and some degree of INTELLECTUAL DISABILITY. The phenotype bears similarities to that of TURNER SYNDROME that occurs only in females and has its basis in a 45, X karyotype abnormality. Noonan syndrome occurs in both males and females with a normal karyotype (46,XX and 46,XY). Mutations in a several genes (PTPN11, KRAS, SOS1, NF1 and RAF1) have been associated the the NS phenotype. Mutations in PTPN11 are the most common. LEOPARD SYNDROME, a disorder that has clinical features overlapping those of Noonan Syndrome, is also due to mutations in PTPN11. In addition, there is overlap with the syndrome called neurofibromatosis-Noonan syndrome due to mutations in NF1.
An autosomal dominant disorder with an acronym of its seven features (LENTIGO; ELECTROCARDIOGRAM abnormalities; ocular HYPERTELORISM; PULMONARY STENOSIS; abnormal genitalia; retardation of growth; and DEAFNESS or SENSORINEURAL HEARING LOSS). This syndrome is caused by mutations of PTPN11 gene encoding the non-receptor PROTEIN TYROSINE PHOSPHATASE, type 11, and is an allelic to NOONAN SYNDROME. Features of LEOPARD syndrome overlap with those of NEUROFIBROMATOSIS 1 which is caused by mutations in the NEUROFIBROMATOSIS 1 GENES.
A subtype of non-receptor protein tyrosine phosphatases that contain two SRC HOMOLOGY DOMAINS. Mutations in the gene for protein tyrosine phosphatase, non-receptor type 11 are associated with NOONAN SYNDROME.
A mammalian homolog of the DROSOPHILA SON OF SEVENLESS PROTEIN. It is a guanine nucleotide exchange factor for RAS PROTEINS.
A characteristic symptom complex.
Rare congenital disorder with multiple anomalies including: characteristic dysmorphic craniofacial features, musculoskeletal abnormalities, neurocognitive delay, and high prevalence of cancer. Germline mutations in H-Ras protein can cause Costello syndrome. Costello syndrome shows early phenotypic overlap with other disorders that involve MAP KINASE SIGNALING SYSTEM (e.g., NOONAN SYNDROME and cardiofaciocutaneous syndrome).
The appearance of the face that is often characteristic of a disease or pathological condition, as the elfin facies of WILLIAMS SYNDROME or the mongoloid facies of DOWN SYNDROME. (Random House Unabridged Dictionary, 2d ed)
Benign childhood alopecia that improves spontaneously with aging. It is characterized by anagen hairs (misshapen hair bulbs and absent inner and outer root sheaths), thin, and sparse hairs that pulls out easily.
The pathologic narrowing of the orifice of the PULMONARY VALVE. This lesion restricts blood outflow from the RIGHT VENTRICLE to the PULMONARY ARTERY. When the trileaflet valve is fused into an imperforate membrane, the blockage is complete.
Curved rows of HAIR located on the upper edges of the eye sockets.
'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.
A condition of substandard growth or diminished capacity to maintain normal function.
An enzyme group that specifically dephosphorylates phosphotyrosyl residues in selected proteins. Together with PROTEIN-TYROSINE KINASE, it regulates tyrosine phosphorylation and dephosphorylation in cellular signal transduction and may play a role in cell growth control and carcinogenesis.
A fibro-osseous hereditary disease of the jaws. The swollen jaws and raised eyes give a cherubic appearance; multiple radiolucencies are evident upon radiographic examination.
Congenital structural abnormalities of the skin.
Congenital structural deformities, malformations, or other abnormalities of the cranium and facial bones.
A group of hereditary disorders involving tissues and structures derived from the embryonic ectoderm. They are characterized by the presence of abnormalities at birth and involvement of both the epidermis and skin appendages. They are generally nonprogressive and diffuse. Various forms exist, including anhidrotic and hidrotic dysplasias, FOCAL DERMAL HYPOPLASIA, and aplasia cutis congenita.
The processes of anatomical and physiological changes related to sexual or reproductive functions during the life span of a human or an animal, from FERTILIZATION to DEATH. These include SEX DETERMINATION PROCESSES; SEX DIFFERENTIATION; SEXUAL MATURATION; and changes during AGING.
Concretions of swallowed hair, fruit or vegetable fibers, or similar substances found in the alimentary canal.
Tumor suppressor genes located on the long arm of human chromosome 17 in the region 17q11.2. Mutation of these genes is thought to cause NEUROFIBROMATOSIS 1, Watson syndrome, and LEOPARD syndrome.
Developmental abnormalities involving structures of the heart. These defects are present at birth but may be discovered later in life.
A leukemia affecting young children characterized by SPLENOMEGALY, enlarged lymph nodes, rashes, and hemorrhages. Traditionally classed as a myeloproliferative disease, it is now considered a mixed myeloproliferative-mylelodysplastic disorder.
Any detectable and heritable alteration in the lineage of germ cells. Mutations in these cells (i.e., "generative" cells ancestral to the gametes) are transmitted to progeny while those in somatic cells are not.
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.
Methods and procedures for the diagnosis of diseases or dysfunction of the endocrine glands or demonstration of their physiological processes.
Small, monomeric GTP-binding proteins encoded by ras genes (GENES, RAS). The protooncogene-derived protein, PROTO-ONCOGENE PROTEIN P21(RAS), plays a role in normal cellular growth, differentiation and development. The oncogene-derived protein (ONCOGENE PROTEIN P21(RAS)) can play a role in aberrant cellular regulation during neoplastic cell transformation (CELL TRANSFORMATION, NEOPLASTIC). This enzyme was formerly listed as EC 3.6.1.47.
An autosomal dominant inherited disorder (with a high frequency of spontaneous mutations) that features developmental changes in the nervous system, muscles, bones, and skin, most notably in tissue derived from the embryonic NEURAL CREST. Multiple hyperpigmented skin lesions and subcutaneous tumors are the hallmark of this disease. Peripheral and central nervous system neoplasms occur frequently, especially OPTIC NERVE GLIOMA and NEUROFIBROSARCOMA. NF1 is caused by mutations which inactivate the NF1 gene (GENES, NEUROFIBROMATOSIS 1) on chromosome 17q. The incidence of learning disabilities is also elevated in this condition. (From Adams et al., Principles of Neurology, 6th ed, pp1014-18) There is overlap of clinical features with NOONAN SYNDROME in a syndrome called neurofibromatosis-Noonan syndrome. Both the PTPN11 and NF1 gene products are involved in the SIGNAL TRANSDUCTION pathway of Ras (RAS PROTEINS).
A form of CARDIAC MUSCLE disease, characterized by left and/or right ventricular hypertrophy (HYPERTROPHY, LEFT VENTRICULAR; HYPERTROPHY, RIGHT VENTRICULAR), frequent asymmetrical involvement of the HEART SEPTUM, and normal or reduced left ventricular volume. Risk factors include HYPERTENSION; AORTIC STENOSIS; and gene MUTATION; (FAMILIAL HYPERTROPHIC CARDIOMYOPATHY).
Proteins and peptides that are involved in SIGNAL TRANSDUCTION within the cell. Included here are peptides and proteins that regulate the activity of TRANSCRIPTION FACTORS and cellular processes in response to signals from CELL SURFACE RECEPTORS. Intracellular signaling peptide and proteins may be part of an enzymatic signaling cascade or act through binding to and modifying the action of other signaling factors.

Feeding difficulties and foregut dysmotility in Noonan's syndrome. (1/181)

PURPOSE: Noonan's syndrome is a common dysmorphic syndrome in which failure to thrive and gastrointestinal symptoms are frequent but poorly understood. DESIGN: Twenty five children with Noonan's syndrome were investigated by contrast radiology, pH monitoring, surface electrogastrography (EGG), and antroduodenal manometry (ADM). RESULTS: Sixteen had poor feeding and symptoms of gastrointestinal dysfunction. All 16 required tube feeding. Seven of 25 had symptoms of foregut dysmotility and gastro-oesophageal reflux. In the most symptomatic children (four of seven) EGG showed fasting frequency gradient loss along the stomach fundus and pylorus with antral postprandial frequency loss. ADM showed shortened fasting cycle length, with abnormal phase III and shortened postprandial activity containing phasic contractions. IMPLICATIONS: Gastroduodenal motor activity was reminiscent of 32-35 week preterm patterns. The feeding difficulties appear to resolve as gut motility matures. In Noonan's syndrome, feeding problems appear to be the result of delayed gastrointestinal motor development.  (+info)

Loss of the SHOX gene associated with Leri-Weill dyschondrosteosis in a 45,X male. (2/181)

A male patient is reported with a 45,X karyotype and Leri-Weill dyschondrosteosis (LWD). FISH analysis with SHOX and SRY gene probes was carried out. One copy of both SHOX and SRY was detected in interphase nuclei, clarifying the origin of LWD and the male phenotype. Molecular results suggested that the 45,X karyotype arose through two independent events. The first occurred at paternal meiosis leading to an unequal crossing over between the short arms of the X and Y chromosomes. As a consequence, the SRY gene was translocated onto Xp, thereby explaining the male phenotype of the patient. The second event probably occurred at maternal meiosis or at the early stages of the zygote resulting in the loss of the maternal X chromosome.  (+info)

A cohort study of childhood hypertrophic cardiomyopathy: improved survival following high-dose beta-adrenoceptor antagonist treatment. (3/181)

OBJECTIVES: The study analyzed factors, including treatment, affecting disease-related death in patients with hypertrophic cardiomyopathy (HCM) presenting in childhood. BACKGROUND: Previous smaller studies suggest that mortality is higher in patients with HCM presenting in childhood compared with presentation in adulthood, but these studies have all originated from selected patient populations in tertiary referral centers, and reported no significant protection by treatment. METHODS: Retrospective comparisons of mortality were done in total cohort of patients presenting to three regional centers of pediatric cardiology. There were 66 patients (25 with Noonan's syndrome) with HCM presenting at age <19 years; mean follow-up was 12.0 years. RESULTS: Among risk factors for death were congestive heart failure (p = 0.008), large electrocardiogram voltages (Sokolow-Lyon index p = 0.0003), and degree of septal (p = 0.004) and left ventricular (p = 0.028) hypertrophy expressed as percent of 95th centile value. The only treatment that significantly reduced the risk of death on multifactorial analysis of variance was high-dose beta-adrenoceptor antagonist therapy (propranolol 5 to 23 mg/kg/day or equivalent; p = 0.0001). Nineteen out of 40 patients managed conventionally (no treatment, 0.8 to 4 mg/kg of propranolol, or verapamil) died, median survival 15.8 years, with no deaths among 26 patients on high-dose beta-blockers (p = 0.0004); survival proportions at 10 years were 0.65 (95% confidence interval 0.49-0.80) and 1.0, respectively (p = 0.0015). Survival time analysis shows better survival in the high-dose beta-blocker group compared with the "no specific therapy" group (p = 0.0009) and with the conventional-dose beta-blocker group (p = 0.002). Hazard ratio analysis suggests that high-dose beta-blocker therapy produces a 5-10-fold reduction in the risk of disease-related death. CONCLUSIONS: High-dose beta-blocker therapy improves survival in childhood HCM.  (+info)

Noonan syndrome: a clinical and genetic study of 31 patients. (4/181)

Noonan syndrome is a multiple congenital anomaly syndrome, inherited in an autosomal dominant pattern. We studied 31 patients (18 males and 13 females) affected by this disorder regarding their clinical and genetic characteristics. The most frequent clinical findings were short stature (71%); craniofacial dysmorphisms, especially hypertelorism, ptosis, downslanting of the palpebral fissures; short or webbed neck (87%); cardiac anomalies (65%), and fetal pads in fingers and toes (70%). After studying the probands' first-degree relatives, we made the diagnosis of Noonan syndrome in more than one family member in three families. Therefore, the majority of our cases were sporadic.  (+info)

Bilateral coronary artery dilatation in a child with Noonan syndrome. (5/181)

A rare case of a child with Noonan syndrome who had huge bilateral coronary artery dilatation is presented. Noonan syndrome is one of the most common nonchromosomal syndromes seen in children with cardiovascular abnormalities. Coronary artery abnormality should be considered in Noonan syndrome, because this syndrome may be associated with a higher incidence of coronary anomalies than previously thought.  (+info)

Neurofibromatosis-Noonan syndrome or LEOPARD Syndrome? A clinical dilemma. (6/181)

Neurofibromatosis (NF), Noonan syndrome (NS), and LEOPARD syndrome are all autosomal dominant conditions, each being a distinct clinical entity by itself. Rarely, one encounters cases with features of NF and NS and is termed as the 'Neurofibromatosis-Noonan syndrome' (NF-NS). The authors report a clinical dilemma with major clinical features of the NF-NS syndrome and LEOPARD syndrome co-existing in the same patient. Also, features of Noonan syndrome and LEOPARD syndrome are compared with the case reported.  (+info)

Cardiac findings in 31 patients with Noonan's syndrome. (7/181)

OBJECTIVE: To evaluate cardiac findings in 31 Noonan syndrome patients. METHODS: Thirty-one (18 males and 13 females)patients from 26 families affected with Noonan's syndrome were evaluated from the cardiac point of view with electrocardiography and Doppler echocardiography. RESULTS: Twenty patients had some type of cardiac abnormality. The most frequent was pulmonary valve stenosis followed by hypertrophic myocardiopathy, commonly associated with valve defects. Upper deviation of the QRS axis was observed in 80% of these patients. CONCLUSION: In view of the high frequency and diversity of cardiac abnormalities present in Noonan syndrome, cardiac evaluation with electrocardiography and echocardiography should be performed in all patients diagnostically suspected of having this disease.  (+info)

Biventricular hypertrophic cardiomyopathy with right ventricular outflow tract obstruction associated with Noonan syndrome in an adult. (8/181)

This report describes an adult patient with Noonan syndrome accompanied by biventricular hypertrophic cardiomyopathy causing isolated right ventricular outflow tract obstruction. Biventricular hypertrophic cardiomyopathy causing right- and/or left-side outflow tract obstruction, as well as valvular pulmonary stenosis, is relatively common in infants with Noonan syndrome. However, this condition without a dysplastic pulmonary valve, or indeed any polyvalvular dysplasia, is rare in adults with Noonan syndrome. Treatment with a beta-adrenergic receptor blocking agent improved the patient's symptoms. Because neither the etiologic and prognostic relationship nor the genetic linkage between hypertrophic cardiomyopathy associated with Noonan syndrome and non-syndromic hypertrophic cardiomyopathy is clearly defined, clinicopathological findings and further follow-up may provide important evidence for the pathogenesis of hypertrophic cardiomyopathy.  (+info)

Noonan Syndrome is a genetic disorder that affects various parts of the body and is characterized by distinctive facial features, short stature, heart defects, and developmental delays. It is caused by mutations in genes responsible for regulating cell growth and division. The syndrome is often identified at birth or in early childhood due to its physical manifestations, which may include widely spaced eyes, low-set ears, a short neck, a broad or webbed neck, chest deformities, and pulmonary valve stenosis. Noonan Syndrome affects both sexes and all races equally, with an estimated prevalence of 1 in 1,000 to 1 in 2,500 live births.

LEOPARD syndrome is a rare genetic disorder that is characterized by multiple lentigines (freckle-like spots), electrocardiographic abnormalities, ocular hypertelorism (wide-set eyes), pulmonic stenosis (narrowing of the pulmonary valve opening), abnormal genitalia, retardation of growth, and deafness. It is caused by mutations in the PTPN11 gene, which provides instructions for making a protein called SHP-2. This protein plays important roles in signaling pathways that control various cellular functions, such as cell growth and division. The signs and symptoms of LEOPARD syndrome can vary widely among affected individuals, even among members of the same family. Treatment is typically focused on managing the specific features of the condition in each individual.

Protein Tyrosine Phosphatase, Non-Receptor Type 11 (PTPN11) is a gene that encodes for the protein tyrosine phosphatase SHP-2. This enzyme regulates various cellular processes, including cell growth, differentiation, and migration, by controlling the balance of phosphorylation and dephosphorylation of proteins involved in signal transduction pathways. Mutations in PTPN11 have been associated with several human diseases, most notably Noonan syndrome and its related disorders, as well as certain types of leukemia.

SOS1 (also known as HEA25 or SIRPA adaptor protein) is a protein that in humans is encoded by the SOS1 gene. It is a member of the SOS family of proteins, which are Ras-specific guanine nucleotide exchange factors (GEFs). GEFs are important regulatory molecules that activate small GTPases by promoting the exchange of bound GDP for GTP.

SOS1 protein is composed of several functional domains, including a Dbl homology (DH) domain, a pleckstrin homology (PH) domain, and a proline-rich region. The DH domain is responsible for the GEF activity of SOS1, while the PH domain binds to phospholipids and regulates the localization and activity of the protein. The proline-rich region interacts with various SH3 domain-containing proteins, allowing SOS1 to participate in a variety of signaling pathways.

SOS1 plays important roles in several cellular processes, including cell growth, differentiation, and survival. It is also involved in the regulation of cytoskeletal dynamics and cell motility. Dysregulation of SOS1 has been implicated in various diseases, including cancer and developmental disorders.

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.

Costello Syndrome is a rare genetic disorder characterized by distinctive facial features, cardiac defects, developmental delay, and intellectual disability. It is caused by mutations in the HRAS gene, which provides instructions for making a protein that is part of a signaling pathway known as the Ras/MAPK pathway, involved in cell growth, division, and survival.

The symptoms of Costello Syndrome can vary widely among affected individuals, but common features include:

* A characteristic facial appearance with full cheeks, wide-spaced eyes, a broad nasal bridge, and a prominent forehead
* Loose, wrinkled skin around the hands and feet
* Curved pinky fingers (clinodactyly)
* Extra skin on the soles of the feet (plantar keratosis)
* Heart defects, such as hypertrophic cardiomyopathy or pulmonary stenosis
* Developmental delay and intellectual disability
* A predisposition to developing certain types of cancer, particularly rhabdomyosarcoma and bladder carcinoma

Costello Syndrome is typically diagnosed based on a combination of clinical features, genetic testing, and family history. There is no cure for the condition, but management is focused on addressing individual symptoms as they arise. This may include medications to manage heart problems, physical therapy to help with developmental delays, and regular cancer screening.

"Facies" is a medical term that refers to the typical appearance of a person or part of the body, particularly the face, which may provide clues about their underlying medical condition or genetic background. A specific facies is often associated with certain syndromes or disorders. For example, a "downsyndrome facies" refers to the distinctive facial features commonly found in individuals with Down syndrome, such as a flattened nasal bridge, almond-shaped eyes, and an upward slant to the eyelids.

It's important to note that while facies can provide valuable diagnostic information, it should be used in conjunction with other clinical findings and genetic testing to make a definitive diagnosis. Additionally, facies should be described objectively and without judgment, as they are simply physical characteristics associated with certain medical conditions.

Loose Anagen Hair Syndrome (LAHS) is a rare hair growth disorder, primarily seen in children, that is characterized by the easy and painless removal of hairs from the scalp. In this condition, the affected hairs are not firmly attached to the hair follicles, which results in increased hair shedding. The loose anagen hairs can be noticed during routine hair washing or brushing, and they often have a short, tapered root without a fully formed bulb.

LAHS is typically divided into two types:

1. **Type I (Classic)** - This form of LAHS is more common in children, particularly those under three years old. The hair growth is usually normal, but the hairs are easily extracted with minimal force. Most cases resolve spontaneously as the child grows older.
2. **Type II (Heritable)** - Also known as "Ectodermal Dysplasia Syndrome," this form of LAHS has a stronger genetic component and is often associated with other ectodermal abnormalities, such as sparse hair growth, eyebrows, or eyelashes; nail dystrophy; and dental anomalies.

The exact cause of Loose Anagen Hair Syndrome remains unclear, but it has been linked to mutations in genes responsible for the structure and function of the inner root sheath of the hair follicle. Treatment options are limited, as LAHS often resolves on its own with time. However, some cases may benefit from topical minoxidil or mild keratolytic agents to improve hair anchorage and reduce hair loss.

Pulmonary Valve Stenosis is a cardiac condition where the pulmonary valve, located between the right ventricle and the pulmonary artery, has a narrowed opening. This stenosis (narrowing) can cause obstruction of blood flow from the right ventricle to the lungs. The narrowing can be caused by a fusion of the valve leaflets, thickened or calcified valve leaflets, or rarely, a dysplastic valve.

The severity of Pulmonary Valve Stenosis is classified based on the gradient pressure across the valve, which is measured during an echocardiogram. A mild stenosis has a gradient of less than 30 mmHg, moderate stenosis has a gradient between 30-59 mmHg, and severe stenosis has a gradient of 60 mmHg or higher.

Mild Pulmonary Valve Stenosis may not require treatment, while more severe cases may need to be treated with balloon valvuloplasty or surgical valve replacement. If left untreated, Pulmonary Valve Stenosis can lead to right ventricular hypertrophy, heart failure, and other complications.

The eyebrows are a set of hairs that grow above the eyes on the forehead. They are an important feature of human facial anatomy, and play several roles in non-verbal communication and self-expression. Eyebrows help to prevent sweat and other moisture from dripping into the eyes, and also serve as a protective barrier against dirt, dust, and other foreign particles that might otherwise irritate or damage the eyes.

In addition, eyebrows play an important role in human social interaction and communication. They can convey a range of emotions and facial expressions, such as surprise, anger, fear, happiness, and sadness. Eyebrows can also help to frame the eyes and enhance their appearance, making them an important aspect of personal grooming and beauty.

The eyebrows are made up of several components, including hair follicles, sebaceous glands, and muscles that control their movement. The hairs themselves are composed of a protein called keratin, which also makes up the hair on the head, as well as nails and skin. The color and thickness of eyebrow hair can vary widely from person to person, and may be influenced by factors such as age, genetics, and hormonal changes.

In medical terms, changes in the appearance or condition of the eyebrows can sometimes be a sign of underlying health issues. For example, thinning or loss of eyebrows can be associated with conditions such as alopecia, thyroid disorders, or nutritional deficiencies. Changes in eyebrow shape or position can also be a symptom of certain neurological conditions, such as Bell's palsy or stroke. As such, any significant changes in the appearance or condition of the eyebrows should be evaluated by a healthcare professional to rule out any underlying medical causes.

'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.

"Failure to Thrive" is a medical term used to describe a condition in infants and children who are not growing and gaining weight as expected. It is typically defined as significant deviation from normal growth patterns, such as poor weight gain or loss, slow increase in length/height, and delayed developmental milestones. The condition can have various causes, including medical, psychological, social, and environmental factors. Early identification and intervention are crucial to address the underlying cause and promote healthy growth and development.

Protein Tyrosine Phosphatases (PTPs) are a group of enzymes that play a crucial role in the regulation of various cellular processes, including cell growth, differentiation, and signal transduction. PTPs function by removing phosphate groups from tyrosine residues on proteins, thereby counteracting the effects of tyrosine kinases, which add phosphate groups to tyrosine residues to activate proteins.

PTPs are classified into several subfamilies based on their structure and function, including classical PTPs, dual-specificity PTPs (DSPs), and low molecular weight PTPs (LMW-PTPs). Each subfamily has distinct substrate specificities and regulatory mechanisms.

Classical PTPs are further divided into receptor-like PTPs (RPTPs) and non-receptor PTPs (NRPTPs). RPTPs contain a transmembrane domain and extracellular regions that mediate cell-cell interactions, while NRPTPs are soluble enzymes located in the cytoplasm.

DSPs can dephosphorylate both tyrosine and serine/threonine residues on proteins and play a critical role in regulating various signaling pathways, including the mitogen-activated protein kinase (MAPK) pathway.

LMW-PTPs are a group of small molecular weight PTPs that localize to different cellular compartments, such as the endoplasmic reticulum and mitochondria, and regulate various cellular processes, including protein folding and apoptosis.

Overall, PTPs play a critical role in maintaining the balance of phosphorylation and dephosphorylation events in cells, and dysregulation of PTP activity has been implicated in various diseases, including cancer, diabetes, and neurological disorders.

Cherubism is a rare, genetic disorder that affects the bones of the jaw. It is characterized by the replacement of the normal bone with fibrous tissue and cysts, leading to progressive enlargement of the lower jaw (mandible) and, less commonly, the upper jaw (maxilla). The swelling gives the cheeks a fuller appearance, which may resemble the chubby faces of cherubs in art.

The condition typically becomes apparent between the ages of 2 and 7, and it usually progresses until the teenage years, when it begins to stabilize and eventually regress in early adulthood. Cherubism is caused by mutations in the SH3BP2 gene and is inherited in an autosomal dominant manner, meaning that a child has a 50% chance of inheriting the condition if one parent is affected.

While cherubism can cause significant facial deformities, it rarely affects the person's ability to eat, speak, or breathe. Treatment options include observation, orthodontic treatment, and surgical intervention to remove the cysts and reshape the jawbones if necessary.

Skin abnormalities refer to any changes in the skin that deviate from its normal structure, function, or color. These can manifest as various conditions such as lesions, growths, discolorations, or textural alterations. Examples include moles, freckles, birthmarks, rashes, hives, acne, eczema, psoriasis, rosacea, skin cancer, and many others. Some skin abnormalities may be harmless and require no treatment, while others might indicate an underlying medical condition that requires further evaluation and management.

Craniofacial abnormalities refer to a group of birth defects that affect the development of the skull and face. These abnormalities can range from mild to severe and may involve differences in the shape and structure of the head, face, and jaws, as well as issues with the formation of facial features such as the eyes, nose, and mouth.

Craniofacial abnormalities can be caused by genetic factors, environmental influences, or a combination of both. Some common examples of craniofacial abnormalities include cleft lip and palate, craniosynostosis (premature fusion of the skull bones), and hemifacial microsomia (underdevelopment of one side of the face).

Treatment for craniofacial abnormalities may involve a team of healthcare professionals, including plastic surgeons, neurosurgeons, orthodontists, speech therapists, and other specialists. Treatment options may include surgery, bracing, therapy, and other interventions to help improve function and appearance.

Ectodermal dysplasia (ED) is a group of genetic disorders that affect the development and formation of ectodermal tissues, which include the skin, hair, nails, teeth, and sweat glands. The condition is usually present at birth or appears in early infancy.

The symptoms of ED can vary widely depending on the specific type and severity of the disorder. Common features may include:

* Sparse or absent hair
* Thin, wrinkled, or rough skin
* Abnormal or missing teeth
* Nail abnormalities
* Absent or reduced sweat glands, leading to heat intolerance and problems regulating body temperature
* Ear abnormalities, which can result in hearing loss
* Eye abnormalities

ED is caused by mutations in genes that are involved in the development of ectodermal tissues. Most cases of ED are inherited in an autosomal dominant or autosomal recessive pattern, meaning that a child can inherit the disorder even if only one parent (dominant) or both parents (recessive) carry the mutated gene.

There is no cure for ED, but treatment is focused on managing the symptoms and improving quality of life. This may include measures to maintain body temperature, such as cooling vests or frequent cool baths; dental treatments to replace missing teeth; hearing aids for hearing loss; and skin care regimens to prevent dryness and irritation.

Sexual development is a multidimensional process that includes physical, cognitive, emotional, and social aspects. It refers to the changes and growth that occur in an individual from infancy to adulthood related to sexuality, reproduction, and gender identity. This process involves the maturation of primary and secondary sex characteristics, the development of sexual attraction and desire, and the acquisition of knowledge about sexual health and relationships.

Physical aspects of sexual development include the maturation of reproductive organs, hormonal changes, and the development of secondary sexual characteristics such as breast development in females and facial hair growth in males. Cognitive aspects involve the development of sexual knowledge, attitudes, and values. Emotional aspects refer to the emergence of sexual feelings, desires, and fantasies, as well as the ability to form intimate relationships. Social aspects include the development of gender roles and identities, communication skills related to sexuality, and the ability to navigate social norms and expectations around sexual behavior.

Sexual development is a complex and ongoing process that is influenced by various factors such as genetics, hormones, environment, culture, and personal experiences. It is important to note that sexual development varies widely among individuals, and there is no one "normal" or "correct" way for it to unfold.

A bezoar is a mass trapped in the gastrointestinal tract, typically in the stomach, that is composed of indigestible materials such as hair, fibers, or food particles. Bezoars can cause various symptoms including nausea, vomiting, abdominal pain, and obstruction. They are more commonly found in people with certain conditions such as diabetes, mental health disorders, or those who have had gastric surgery. Treatment may involve medication or endoscopic removal of the bezoar.

Neurofibromatosis 1 (NF1) is a genetic disorder caused by mutations in the NF1 gene, which is located on chromosome 17 and encodes the protein neurofibromin. Neurofibromin is a tumor suppressor protein that regulates cell growth and differentiation.

The NF1 gene mutation leads to the development of benign (non-cancerous) tumors on nerves and skin, called neurofibromas, as well as other clinical features such as café-au-lait spots (light brown patches on the skin), freckling in the axillary or inguinal regions, Lisch nodules (harmless growths on the iris of the eye), and skeletal abnormalities.

Neurofibromatosis 1 is an autosomal dominant disorder, which means that a person has a 50% chance of inheriting the mutated gene from an affected parent. However, up to 50% of cases result from new mutations in the NF1 gene and occur in people with no family history of the condition.

The clinical manifestations of Neurofibromatosis 1 can vary widely among individuals, even within the same family. The diagnosis is typically made based on clinical criteria established by the National Institutes of Health (NIH). Treatment is generally focused on managing symptoms and addressing complications as they arise, although surgery may be necessary to remove large or symptomatic tumors.

Congenital heart defects (CHDs) are structural abnormalities in the heart that are present at birth. They can affect any part of the heart's structure, including the walls of the heart, the valves inside the heart, and the major blood vessels that lead to and from the heart.

Congenital heart defects can range from mild to severe and can cause various symptoms depending on the type and severity of the defect. Some common symptoms of CHDs include cyanosis (a bluish tint to the skin, lips, and fingernails), shortness of breath, fatigue, poor feeding, and slow growth in infants and children.

There are many different types of congenital heart defects, including:

1. Septal defects: These are holes in the walls that separate the four chambers of the heart. The two most common septal defects are atrial septal defect (ASD) and ventricular septal defect (VSD).
2. Valve abnormalities: These include narrowed or leaky valves, which can affect blood flow through the heart.
3. Obstruction defects: These occur when blood flow is blocked or restricted due to narrowing or absence of a part of the heart's structure. Examples include pulmonary stenosis and coarctation of the aorta.
4. Cyanotic heart defects: These cause a lack of oxygen in the blood, leading to cyanosis. Examples include tetralogy of Fallot and transposition of the great arteries.

The causes of congenital heart defects are not fully understood, but genetic factors and environmental influences during pregnancy may play a role. Some CHDs can be detected before birth through prenatal testing, while others may not be diagnosed until after birth or later in childhood. Treatment for CHDs may include medication, surgery, or other interventions to improve blood flow and oxygenation of the body's tissues.

Juvenile Myelomonocytic Leukemia (JMML) is a rare and aggressive type of childhood leukemia, characterized by the overproduction of myeloid and monocytic white blood cells in the bone marrow. These cells accumulate in the bloodstream, leading to an increased risk of infection, anemia, and bleeding. JMML is different from other types of leukemia because it involves both the myeloid and monocytic cell lines, and it often affects younger children, typically those under 4 years old. The exact cause of JMML is not fully understood, but it has been linked to genetic mutations in certain genes, such as PTPN11, NRAS, KRAS, CBL, and NF1. Treatment for JMML usually involves a combination of chemotherapy, stem cell transplantation, and supportive care.

A germ-line mutation is a genetic change that occurs in the egg or sperm cells (gametes), and thus can be passed down from parents to their offspring. These mutations are present throughout the entire body of the offspring, as they are incorporated into the DNA of every cell during embryonic development.

Germ-line mutations differ from somatic mutations, which occur in other cells of the body that are not involved in reproduction. While somatic mutations can contribute to the development of cancer and other diseases within an individual, they are not passed down to future generations.

It's important to note that germ-line mutations can have significant implications for medical genetics and inherited diseases. For example, if a parent has a germ-line mutation in a gene associated with a particular disease, their offspring may have an increased risk of developing that disease as well.

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.

Diagnostic techniques in endocrinology are methods used to identify and diagnose various endocrine disorders. These techniques include:

1. Hormone measurements: Measuring the levels of hormones in blood, urine, or saliva can help identify excess or deficiency of specific hormones. This is often done through immunoassays, which use antibodies to detect and quantify hormones.

2. Provocative and suppression tests: These tests involve administering a medication that stimulates or suppresses the release of a particular hormone. Blood samples are taken before and after the medication is given to assess changes in hormone levels. Examples include the glucose tolerance test for diabetes, the ACTH stimulation test for adrenal insufficiency, and the thyroid suppression test for hyperthyroidism.

3. Imaging studies: Various imaging techniques can be used to visualize endocrine glands and identify structural abnormalities such as tumors or nodules. These include X-rays, ultrasound, computed tomography (CT), magnetic resonance imaging (MRI), and nuclear medicine scans using radioactive tracers.

4. Genetic testing: Molecular genetic tests can be used to identify genetic mutations associated with certain endocrine disorders, such as multiple endocrine neoplasia type 1 or 2, or congenital adrenal hyperplasia.

5. Biopsy: In some cases, a small sample of tissue may be removed from an endocrine gland for microscopic examination (biopsy). This can help confirm the presence of cancer or other abnormalities.

6. Functional tests: These tests assess the ability of an endocrine gland to produce and secrete hormones in response to various stimuli. Examples include the glucagon stimulation test for gastrinoma and the calcium infusion test for hyperparathyroidism.

7. Wearable monitoring devices: Continuous glucose monitoring systems (CGMS) are wearable devices that measure interstitial glucose levels continuously over several days, providing valuable information about glycemic control in patients with diabetes.

Ras proteins are a group of small GTPases that play crucial roles as regulators of intracellular signaling pathways in cells. They are involved in various cellular processes, such as cell growth, differentiation, and survival. Ras proteins cycle between an inactive GDP-bound state and an active GTP-bound state to transmit signals from membrane receptors to downstream effectors. Mutations in Ras genes can lead to constitutive activation of Ras proteins, which has been implicated in various human cancers and developmental disorders.

Neurofibromatosis 1 (NF1) is a genetic disorder that affects the development and growth of nerve tissue. It's also known as von Recklinghausen disease. NF1 is characterized by the growth of non-cancerous tumors on the nerves, as well as skin and bone abnormalities.

The symptoms of Neurofibromatosis 1 can vary widely, even among members of the same family. Some common features include:

* Multiple café au lait spots (flat, light brown patches on the skin)
* Freckles in the underarms and groin area
* Benign growths on or under the skin called neurofibromas
* Larger, more complex tumors called plexiform neurofibromas
* Optic gliomas (tumors that form on the optic nerve)
* Distinctive bone abnormalities, such as a curved spine (scoliosis) or an enlarged head (macrocephaly)
* Learning disabilities and behavioral problems

Neurofibromatosis 1 is caused by mutations in the NF1 gene, which provides instructions for making a protein called neurofibromin. This protein helps regulate cell growth and division. When the NF1 gene is mutated, the production of neurofibromin is reduced or absent, leading to uncontrolled cell growth and the development of tumors.

NF1 is an autosomal dominant disorder, which means that a person has a 50% chance of inheriting the mutated gene from an affected parent. However, about half of all cases are the result of new mutations in the NF1 gene, and occur in people with no family history of the disorder.

There is currently no cure for Neurofibromatosis 1, but treatments are available to manage the symptoms and complications of the disease. These may include medications to control pain or reduce the size of tumors, surgery to remove tumors or correct bone abnormalities, and physical therapy to improve mobility and strength. Regular monitoring by a healthcare team experienced in treating Neurofibromatosis 1 is also important to detect any changes in the condition and provide appropriate care.

Hypertrophic cardiomyopathy (HCM) is a genetic disorder characterized by the thickening of the heart muscle, specifically the ventricles (the lower chambers of the heart that pump blood out to the body). This thickening can make it harder for the heart to pump blood effectively, which can lead to symptoms such as shortness of breath, chest pain, and fatigue. In some cases, HCM can also cause abnormal heart rhythms (arrhythmias) and may increase the risk of sudden cardiac death.

The thickening of the heart muscle in HCM is caused by an overgrowth of the cells that make up the heart muscle, known as cardiomyocytes. This overgrowth can be caused by mutations in any one of several genes that encode proteins involved in the structure and function of the heart muscle. These genetic mutations are usually inherited from a parent, but they can also occur spontaneously in an individual with no family history of the disorder.

HCM is typically diagnosed using echocardiography (a type of ultrasound that uses sound waves to create images of the heart) and other diagnostic tests such as electrocardiogram (ECG) and cardiac magnetic resonance imaging (MRI). Treatment for HCM may include medications to help manage symptoms, lifestyle modifications, and in some cases, surgical procedures or implantable devices to help prevent or treat arrhythmias.

Intracellular signaling peptides and proteins are molecules that play a crucial role in transmitting signals within cells, which ultimately lead to changes in cell behavior or function. These signals can originate from outside the cell (extracellular) or within the cell itself. Intracellular signaling molecules include various types of peptides and proteins, such as:

1. G-protein coupled receptors (GPCRs): These are seven-transmembrane domain receptors that bind to extracellular signaling molecules like hormones, neurotransmitters, or chemokines. Upon activation, they initiate a cascade of intracellular signals through G proteins and secondary messengers.
2. Receptor tyrosine kinases (RTKs): These are transmembrane receptors that bind to growth factors, cytokines, or hormones. Activation of RTKs leads to autophosphorylation of specific tyrosine residues, creating binding sites for intracellular signaling proteins such as adapter proteins, phosphatases, and enzymes like Ras, PI3K, and Src family kinases.
3. Second messenger systems: Intracellular second messengers are small molecules that amplify and propagate signals within the cell. Examples include cyclic adenosine monophosphate (cAMP), cyclic guanosine monophosphate (cGMP), diacylglycerol (DAG), inositol triphosphate (IP3), calcium ions (Ca2+), and nitric oxide (NO). These second messengers activate or inhibit various downstream effectors, leading to changes in cellular responses.
4. Signal transduction cascades: Intracellular signaling proteins often form complex networks of interacting molecules that relay signals from the plasma membrane to the nucleus. These cascades involve kinases (protein kinases A, B, C, etc.), phosphatases, and adapter proteins, which ultimately regulate gene expression, cell cycle progression, metabolism, and other cellular processes.
5. Ubiquitination and proteasome degradation: Intracellular signaling pathways can also control protein stability by modulating ubiquitin-proteasome degradation. E3 ubiquitin ligases recognize specific substrates and conjugate them with ubiquitin molecules, targeting them for proteasomal degradation. This process regulates the abundance of key signaling proteins and contributes to signal termination or amplification.

In summary, intracellular signaling pathways involve a complex network of interacting proteins that relay signals from the plasma membrane to various cellular compartments, ultimately regulating gene expression, metabolism, and other cellular processes. Dysregulation of these pathways can contribute to disease development and progression, making them attractive targets for therapeutic intervention.

Costello syndrome - Like CFC syndrome, Costello syndrome has overlapping features with Noonan's Syndrome. However, the ... "Noonan syndrome" became officially recognized. List of syndromes Characteristics of syndromic ASD conditions "Noonan syndrome ... Other RASopathies Watson syndrome - Watson Syndrome has a number of similar characteristics with Noonan's Syndrome such as ... Cardiofaciocutaneous (CFC) syndrome - CFC syndrome is very similar to Noonan's Syndrome due to similar cardiac and lymphatic ...
... is caused by a different missense mutation of the same gene. Noonan syndrome is fairly ... LEOPARD Syndrome at eMedicine "LEOPARD Syndrome". NORD - National Organization for Rare Disorders. "Noonan syndrome with ... Noonan syndrome with multiple lentigines (NSML) which is part of a group called Ras/MAPK pathway syndromes, is a rare autosomal ... 1 April 2000). "Neurofibromatosis-Noonan syndrome or LEOPARD Syndrome? A clinical dilemma". J Postgrad Med. 46 (2): 98-100. ...
"Noonan Syndrome with guest Dr Jaqueline Noonan". Iowa Public Radio, Talk of Iowa. Retrieved February 27, 2014. "Noonan, ... the condition was officially named Noonan syndrome in 1971. Dr. Noonan moved on to the fledgling University of Kentucky medical ... She was also the original describer of hypoplastic left heart syndrome. Noonan was born October 28, 1928, in Burlington, ... was an American pediatric cardiologist best known for her characterization of a genetic disorder now called Noonan syndrome. ...
"Noonan syndrome". Genetics Home Reference. Retrieved 2019-04-18. Piotrowski A, Xie J, Liu YF, Poplawski AB, Gomes AR, Madanecki ... Studies have shown that in 29 genes there were 163 variants in patients with Noonan Syndrome. In the study, using In Silco ... Noonan syndrome is an autosomal dominant multisystem disorder characterized by a wide phenotypic spectrum including distinctive ... DiGeorge syndrome. (known as 22q11.2 deletion) caused by a deletion in the 22nd chromosome. Some of the typical symptoms ...
In cases where the underlying cause is known the syndrome is named as for example Down syndrome and Noonan syndrome. Other ... Noonan syndrome for example, has a diagnostic set of unique facial and musculoskeletal features. Some syndromes such as ... "Noonan syndrome: MedlinePlus Genetics". medlineplus.gov. Retrieved 2 February 2021. "Nephrotic Syndrome in Adults , NIDDK". ... and this may be associated with Williams syndrome, or Donohue syndrome. The most well-known facies is probably the Hippocratic ...
Several germline KRAS mutations have been found to be associated with Noonan syndrome and cardio-facio-cutaneous syndrome. ... March 2006). "Germline KRAS mutations cause Noonan syndrome". Nature Genetics. 38 (3): 331-336. doi:10.1038/ng1748. PMID ... Controls GeneReviews/NCBI/NIH/UW entry on Cardiofaciocutaneous Syndrome GeneReviews/NCBI/NIH/UW entry on Noonan syndrome KRAS2+ ... March 2006). "Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome". Nature Genetics. 38 (3): 294-296. doi: ...
"Research finds mutation that causes Noonan syndrome". Harvard Gazette. December 7, 2006. Retrieved September 17, 2023. "U of T ... he was one of the lead scientists who discovered that mutations in the SOS1 gene account for many cases of Noonan syndrome. In ...
It is a feature of Turner syndrome (only found in girls) and Noonan syndrome, as well as the rarer Klippel-Feil syndrome, or ... Qian JG, Wang XJ (2007). "Noonan syndrome and correction of the webbed neck". Journal of Plastic, Reconstructive & Aesthetic ... Miller LB, Kanter M, Wolfort F (1990). "Treatment of webbed neck in Turner's syndrome with tissue expansion". Ann Plast Surg. ... "Modified Z-plasty repair of webbed neck deformity seen in Turner and Klippel-Feil syndrome". Cleft Palate Craniofac. J. 39 (3 ...
"Palinopsia with bacterial brain abscess and Noonan syndrome". Alaska Medicine. 41 (1): 3-7. PMID 10224677. Hayashi, R; Shimizu ... Ossola, M; Romani, A; Tavazzi, E; Pichiecchio, A; Galimberti, CA (May 2010). "Epileptic mechanisms in Charles Bonnet syndrome ... Alice in Wonderland syndrome (micropsia, macropsia, teleopsia, and pelopsia), visual snow, oscillopsia, entoptic phenomena, and ...
Research areas include autism, lupus, and Noonan Syndrome. Kontaridis is also MMRI's Executive Director and the Gordon K. Moe ... including sudden cardiac death syndromes such as the Long QT syndrome, Short QT syndrome, Brugada syndrome and Early ... Research topics also include autism, Noonan Syndrome, brown fat, nano-imaging, targeted drug delivery, and more. There are five ... In 2010 MMRI described "J Wave Syndromes" a subset of inherited cardiac arrhythmia syndromes characterized by accentuated J ...
Binder G, Wittekindt N, Ranke MB (February 2007). Noonan Syndrome: Genetics and Responsiveness to Growth Hormone Therapy. pp. ... Examples of other causes of shortness often treated with GH are Turner syndrome, Growth failure secondary to chronic kidney ... GH has also been used experimentally in patients with short bowel syndrome to lessen the requirement for intravenous total ... More rarely, patients can experience joint swelling, joint pain, carpal tunnel syndrome, and an increased risk of diabetes. In ...
Mutations in A2ML1 are associated to Noonan-like syndrome. GRCh38: Ensembl release 89: ENSG00000166535 - Ensembl, May 2017 " ... "Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome". Eur. J. Hum. ...
Recent studies also show that mutations in Sos1 can cause Noonan syndrome and hereditary gingival fibromatosis type 1. Noonan ... January 2007). "Germline gain-of-function mutations in SOS1 cause Noonan syndrome". Nature Genetics. 39 (1): 70-74. doi:10.1038 ... December 2001). "Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome". Nature Genetics ... GeneReviews/NCBI/NIH/UW entry on Noonan syndrome http://www.noonansyndrome.org http://ghr.nlm.nih.gov/gene=sos1 This article ...
"Germline gain-of-function mutations in SOS1 cause Noonan syndrome". Nature Genetics. 39 (1): 70-4. doi:10.1038/ng1926. PMID ...
Multiple CGCGs can be found in individuals with Noonan syndrome. Mutations in PTPN11 or RAS pathway genes are seen. ...
LEOPARD syndrome, Noonan syndrome, and metachondromatosis are associated with PTPN11. Elevated levels of activated PTPN5 ... "Genetic manipulation of STEP reverses behavioral abnormalities in a fragile X syndrome mouse model". Genes, Brain and Behavior ... negatively affects synaptic stability and plays a role in Alzheimer's disease, Fragile X syndrome, schizophrenia, and ...
Missense mutations in the PTPN11 locus are associated with both Noonan syndrome and Leopard syndrome. At least 79 disease- ... Mutations in this gene are a cause of Noonan syndrome as well as acute myeloid leukemia. This phosphatase, along with its ... In the case of Noonan syndrome, mutations are broadly distributed throughout the coding region of the gene but all appear to ... Patients with a subset of Noonan syndrome PTPN11 mutations also have a higher prevalence of juvenile myelomonocytic leukemias ( ...
"Germline gain-of-function mutations in SOS1 cause Noonan syndrome". Nature Genetics. 39 (1): 70-4. doi:10.1038/ng1926. PMID ...
Noonan syndrome mutations in SOS1 are distributed in clusters positioned throughout the SOS1 coding region. Biochemically, ... Dominant mutant alleles of SOS1 have recently been found to cause Noonan syndrome and hereditary gingival fibromatosis type 1. ... The mutations that cause Noonan syndrome thus appear to perturb intramolecular interactions necessary for SOS1 auto-inhibition ... Noonan syndrome has also been shown to be caused by mutations in KRAS and PTPN11 genes. A common feature of these genes is that ...
These disorders include Apert syndrome, Achondroplasia, Noonan syndrome and Costello syndrome. Goriely has argued that more ...
Noonan syndrome: increased frequency of whorls on fingertips; and the axial triradius t, as in Turner syndrome, is more often ... Rott H, Schwanitz G, Reither M (1975). "[Dermatoglyphics in Noonan's syndrome (author's transl)]". Acta Genet Med Gemellol ( ... Trisomy 21 (Down syndrome): people with Down syndrome have a fingerprint pattern with mainly ulnar loops, and a distinct angle ... Klinefelter syndrome: excess of arches on digit 1, more frequent ulnar loops on digit 2, overall fewer whorls, lower ridge ...
... cause Noonan syndrome". Nat. Genet. 29 (4): 465-8. doi:10.1038/ng772. PMID 11704759. S2CID 14627986. Wang ZX, Zhou B, Wang QM, ... "Grouping of Multiple-Lentigines/LEOPARD and Noonan Syndromes on the PTPN11 Gene". Am. J. Hum. Genet. 71 (2): 389-94. doi: ... mutations in seven Japanese patients with Noonan syndrome". J. Clin. Endocrinol. Metab. 87 (8): 3529-33. doi:10.1210/jcem.87.8. ...
Costello syndrome is caused by mutations in HRAS. Mutations that cause Noonan syndrome have been found in PTPN11 and SOS1. The ... Syndromes affecting head size, Syndromes affecting the heart, Syndromes affecting the skin, Syndromes with dysmelia, Syndromes ... Costello and Noonan syndrome are similar to CFC and their phenotypic overlap may be due to the biochemical relationship of the ... CFC Syndrome at Genetics Home Reference GeneReview/UW/NIH entry on CFC (Articles with short description, Short description is ...
Mutations in RIT1 are associated to Noonan syndrome. RIT1 has been shown to interact with KLHL12 and Merlin. GRCh38: Ensembl ... "Contribution of RIT1 mutations to the pathogenesis of Noonan syndrome: four new cases and further evidence of heterogeneity". ...
Additionally, it can be associated with Down syndrome, Turner syndrome, or Noonan syndrome. If it is diagnosed in the third ... Cystic hygromas are also often seen in Turner's syndrome, although a patient who does not have the syndrome can present with ... then it is associated with Turner syndrome. A lethal version of this condition exists, known as Cowchock-Wapner-Kurtz syndrome ... Retrieved 2009-06-13.{{cite web}}: CS1 maint: archived copy as title (link) Bruno Bissonnette (2006-08-10). Syndromes: Rapid ...
GeneReviews/NCBI/NIH/UW entry on Noonan syndrome Domain structure diagrams for Raf-1, A-Raf and B-Raf. Drosophila pole hole - ... Mutation of c-Raf is one of the possible causes of Noonan syndrome: affected individuals have congenital heart defects, short ... "Impaired binding of 14-3-3 to C-RAF in Noonan syndrome suggests new approaches in diseases with increased Ras signaling". Mol. ... "Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy". Nat. Genet. 39 (8): 1007- ...
Among the more common are Down syndrome, Prader-Willi syndrome, and Noonan syndrome. In vitro fertilization, use of cosmetics ... and poor semen quality make up the syndrome known as testicular dysgenesis syndrome. Many men who were born with undescended ... Androgen Insensitivity Syndrome generally manifests itself in Cryptorchidism. In CAIS the testis are generally located ... The presence of a uterus by pelvic ultrasound suggests either persistent Müllerian duct syndrome (AMH deficiency or ...
For instance, one cause of Noonan Syndrome is a mutation in the protein Raf-1 which abrogates the interaction with 14-3-3 ... August 2007). "Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy". Nature ... Usher's Syndrome is the most frequent cause of hereditary deaf-blindness in humans and can be caused by mutations in either PDZ ... January 2005). "Liddle's syndrome caused by a novel mutation in the proline-rich PY motif of the epithelial sodium channel beta ...
Germinal mosaicism in Noonan syndrome: A family with two affected siblings of normal parents. Am J Med Genet Part A 152A:2850- ... A Moroccan family consisting of two healthy unrelated parents and three offspring-including two with Noonan syndrome, a rare ... "Germline mosaicism in Rett syndrome identified by prenatal diagnosis". Clinical Genetics. 67 (3): 258-260. doi:10.1111/j.1399- ...
These can include "Noonan Syndrome 9," "Distal Renal Tubular Acidosis," and "Noonan Syndrome 3.". ATP6V1G2 may be involved in ...
Costello syndrome - Like CFC syndrome, Costello syndrome has overlapping features with Noonans Syndrome. However, the ... "Noonan syndrome" became officially recognized. List of syndromes Characteristics of syndromic ASD conditions "Noonan syndrome ... Other RASopathies Watson syndrome - Watson Syndrome has a number of similar characteristics with Noonans Syndrome such as ... Cardiofaciocutaneous (CFC) syndrome - CFC syndrome is very similar to Noonans Syndrome due to similar cardiac and lymphatic ...
Clinical characteristics: Noonan syndrome (NS) is characterized by characteristic facies, short stature, congenital heart ... Several additional genes associated with a Noonan syndrome-like phenotype in fewer than ten individuals have been identified. ... Diagnosis/testing: The diagnosis of Noonan is established in a proband with suggestive findings and a heterozygous pathogenic ...
... present in Noonan Syndrome. Many studies listed other cognitive functions that may be impacted by NS, and depending on the ... Noonan Syndrome Essay. with the Noonan Syndrome! The Noonan syndrome is a condition that normally involves disabilities such as ... Noonan Syndrome Support Group)! The Noonan syndrome is inherited along with birth and anyone may be born with the syndrome ... Noonan Syndrome Case Study. first diagnosis of Noonan syndrome was in 1883 by means of Kobylinski. The patient was a 20-year ...
... J Pediatr. 2004 Mar;144(3):368-74. doi: 10.1016/j.jpeds.2003.11.032. ... To study genotype-phenotype correlations in a cohort of clinically well-characterized pediatric patients with Noonan syndrome ( ...
... formerly called LEOPARD syndrome) is a condition that affects many areas of the body. Explore symptoms, inheritance, genetics ... In addition to Noonan syndrome with multiple lentigines, the RASopathies include Noonan syndrome, cardiofaciocutaneous syndrome ... As the condition name suggests, Noonan syndrome with multiple lentigines is very similar to a condition called Noonan syndrome ... medlineplus.gov/genetics/condition/noonan-syndrome-with-multiple-lentigines/ Noonan syndrome with multiple lentigines. ...
These patients were previously thought to have a form of Turner syndrome, with which Noonan syndrome shares numerous clinical ... Noonan syndrome was first recognized as a unique entity in 1963 when Noonan and Ehmke described a series of patients with ... Signs and symptoms of Noonan syndrome. Symptoms of Noonan syndrome vary in severity but may include the following:. * ... Treatment of Noonan syndrome. Treatment is focused on the symptoms of Noonan syndrome and may include cardiac therapy, growth ...
Differential diagnoses include Cardio-Facio-Cutaneous syndrome, Costello syndrome, Neurofibromatosis type 1, Noonan syndrome ... Noonan syndrome. Disease definition A rare, highly variable, multisystemic disorder mainly characterized by short stature, ... The birth prevalence of Noonan syndrome (NS) is estimated between 1:1000 to 1:2500. ... The clinical spectrum of NS may differ slightly between causative genes, and some forms have been described as Noonan like ...
Noonan syndrome with multiple lentigines Noonan syndrome with multiple lentigines (formerly called LEOPARD syndrome) is a ... Noonan Syndrome (For Parents) (Nemours Foundation) noonan, nunan, noonan syndrome, Lymphatic Malformations, lymphangiomas, ... Noonan syndrome Noonan syndrome is a condition that affects many areas of the body. It is characterized by mildly unusual ... Noonan syndrome Noonan syndrome is a disease present from birth (congenital) that causes many parts of the body to develop ... ...
If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Centers RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.. ...
Noonan syndrome can be difficult to study due to the variation in how the disease presents. Sometimes the syndrome can be ... Noonan Syndrome Research. By Behind The Bench Staff 05.15.2020 Why is rapid and automated targeted next-generation sequencing ( ... Noonan syndrome can impact many areas of the body and is typically characterized by distinct facial features, short stature, ... While Noonan syndrome can be inherited, de novo or spontaneous mutations account for nearly 60% of diagnosed cases. ...
Is Noonans hereditary?. The mutations that cause Noonan syndrome can be: Inherited. Children who have one parent with Noonan ... Is Noonan syndrome a learning disability?. Other less common characteristics of Noonan syndrome can include: learning ... What does someone with Noonan syndrome look like?. People with Noonan syndrome have distinctive facial features such as a deep ... ASD & Noonan Syndrome There is a 15-30% prevalence of autism in NS. This is not surprising given genome analysis has shown the ...
The valve itself was thickened and dysplastic, a characteristic that is typical of Noonan’s syndrome. In addition to the ... We report a case of Noonan syndrome with giant coronary aneurysms.Case Report:A young woman with the phenotypic characteristics ... this case stresses the need to look carefully for abnormalities co-expressed in Noonan’s syndrome. ... of Noonan’s syndrome presented with severe pulmonary stenosis and giant coronary aneurysms. Cross sectional ...
A restricted spectrum of NRAS mutations causes Noonan syndrome. Published in:. Nat Genet 42(1) , 27-9 (Jan 2010) ... Noonan syndrome, a developmental disorder characterized by congenital heart defects, reduced growth, facial dysmorphism and ...
Noonan Syndrome - Learn about the causes, symptoms, diagnosis & treatment from the MSD Manuals - Medical Consumer Version. ... Noonan Syndrome (Noonans Syndrome). By Nina N. Powell-Hamilton , MD, Sidney Kimmel Medical College at Thomas Jefferson ... There is no cure for Noonan syndrome. However, some specific symptoms and problems caused by the syndrome can be treated. ... Sometimes... read more for both boys and girls, and young men with Noonan syndrome may have low levels of testosterone and be ...
Noonan syndrome. This is members only content. To access please log-in or follow the instructions to join. ...
The Noonan Syndrome Association seeks to:. Support those affected by Noonan Syndrome and related conditions (on the Ras/MAPK ... carers and individuals affected by Noonan Syndrome and people with professional expertise in Noonan Syndrome. ... We understand how worrying, uncertain and fearful the diagnosis of Noonan Syndrome can be for you or your loved ones. ...
Noonan syndrome cardio-facio-cutaneous syndrome multiple giant cell lesions Noonan-like/multiple giant cell lesion syndrome RAS ... Noonan syndrome (NS) and cardio-facio-cutaneous syndrome (CFCS) are related developmental disorders caused by mutations in ... Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome. ... the NS phenotype is rarely accompanied by multiple giant cell lesions (MGCL) of the jaw (Noonan-like/MGCL syndrome (NL/MGCLS ...
"Noonan syndrome with syringomyelia and type I Chiari malformation",. abstract = "We report a patient with Noonan syndrome who ... Noonan syndrome with syringomyelia and type I Chiari malformation. / Miller, G.; Ramer, Jeanette. In: Dysmorphology and ... Noonan syndrome with syringomyelia and type I Chiari malformation. In: Dysmorphology and Clinical Genetics. 1990 ; Vol. 4, No. ... Noonan syndrome with syringomyelia and type I Chiari malformation. Dysmorphology and Clinical Genetics. 1990 Dec 1;4(4):141-144 ...
Male Turner syndrome, Noonan-Ehmke syndrome, Turner-like syndrome, Ullrich-Noonan syndrome[1]. ... "Noonan syndrome". https://ghr.nlm.nih.gov/condition/noonan-syndrome. *↑ 2.0 2.1 2.2 2.3 2.4 2.5 2.6 "Noonan Syndrome". 2016. ... Costello syndrome - Like CFC syndrome, Costello syndrome has overlapping features with Noonans Syndrome. However, the ... Watson syndrome - Watson Syndrome has a number of similar characteristics with Noonans Syndrome such as short stature, ...
"Noonan Syndrome" by people in this website by year, and whether "Noonan Syndrome" was a major or minor topic of these ... LEOPARD SYNDROME, a disorder that has clinical features overlapping those of Noonan Syndrome, is also due to mutations in ... In addition, there is overlap with the syndrome called neurofibromatosis-Noonan syndrome due to mutations in NF1. ... Noonan syndrome occurs in both males and females with a normal karyotype (46,XX and 46,XY). Mutations in a several genes ( ...
These patients were previously thought to have a form of Turner syndrome, with which Noonan syndrome shares numerous clinical ... Noonan syndrome was first recognized as a unique entity in 1963 when Noonan and Ehmke described a series of patients with ... encoded search term (Noonan Syndrome) and Noonan Syndrome What to Read Next on Medscape ... with which Noonan syndrome shares numerous clinical features. The observation that patients with Noonan syndrome have normal ...
Book a Prenatal Noonan Syndrome near me that accept your insurance ... Find a Prenatal Noonan Syndrome near me & book an appointment online for free. ...
Biallelic hypomorphic variants in ALDH1A2 cause a novel lethal human multiple congenital anomaly syndrome encompassing ... Cognitive and Adaptive Characterization of Children and Adolescents with KBG Syndrome: An Explorative Study ...
... for Children with Diabetes Glucose Monitoring Adrenal Insufficiency Turner Syndrome Late Adolescence Klinefelter Syndrome ... in Growth Plate Chondrogenesis Persistent Müllerian Duct Syndrome LHX4 Gene Alterations Stunted Growth 45,X/46,XY Gonadal ...
... , cancer planet ayurevda, Causes, Diagnosis, Effects of Noonan Syndrome, Facial ... Ayurvedic Treatment for Noonan Syndrome June 14, 2019. May 22, 2021. Dr. Vikram Chauhan 0 Comments ... Noonan syndrome is a genetic disorder that usually includes heart abnormalities and characteristic facial features. Genetic ... home remedies for noonan syndrome, planet ayurveda, Risk Factors, Signs and Symptoms ...
For a general phenotypic description and discussion of genetic heterogeneity of Noonan syndrome, see NS1 (163950). ... Noonan syndrome-14 (NS14) is a recessive developmental disorder within the RASopathy clinical spectrum. Patients exhibit ... GH Responsiveness in Children With Noonan Syndrome Compared to Turner Syndrome.. Dahlgren J, Albertsson-Wikland K. Front ... Molecular and clinical profile of patients referred as Noonan or Noonan-like syndrome in Greece: a cohort of 86 patients. ...
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia. Synonyms: CBL syndrome , Noonan syndrome-like disorder ... risk of developing cancerSyndrome associated with hypertrophic cardiomyopathyNoonan syndrome and Noonan-related syndromeRare ... website Syndromes Without A Name (SWAN) Australia facebook Syndromes Without A Name (SWAN) Australia instagram Syndromes ... Noonan syndrome-like disorder with juvenile myelomonocytic leukemia. Get in touch with RARE Concierge.. Contact RARE Concierge ...
Skeletal Dysplasia (Dwarfism) MPS Achondroplasia Noonan Syndrome Spondyloepiphyseal Dysplasia Camper Application Deadline: may ...
Ocular findings in Noonan syndrome: a retrospective cohort study of 105 patients. van Trier DC, van der Burgt I, Draaijer RW, ... Ocular findings in Noonan syndrome: a retrospective cohort study of 105 patients. Eur J Pediatr. 2018 Jun 9. doi: 10.1007/ ...
Cohen syndrome • Condylar fracture at the elbow • Noonan syndrome • Turner syndrome: Cubitus valgus is caused by developmental ... Abnormal carrying angle of elbow in children • Cardiofaciocutaneous syndrome • ...

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