OrganismsDiseasesGeographicals
WolvesSyndromeCoyotesDown SyndromeMetabolic Syndrome XCanidaeNephrotic SyndromeSjogren's SyndromeGreat Lakes RegionTurner Syndrome
Wolves
Any of several large carnivorous mammals of the family CANIDAE that usually hunt in packs.
Syndrome
A characteristic symptom complex.
Coyotes
The species Canis latrans in the family CANIDAE, a smaller relative of WOLVES. It is found in the Western hemisphere from Costa Rica to Alaska.
Down Syndrome
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)
Metabolic Syndrome X
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)
Canidae
A family of terrestrial carnivores with long snouts and non-retractable claws. Members include COYOTES; DOGS; FOXES; JACKALS; RACCOON DOGS; and WOLVES.
Nephrotic Syndrome
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.
Sjogren's Syndrome
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.
Great Lakes Region
The geographic area of the Great Lakes in general and when the specific state or states are not indicated. It usually includes Illinois, Indiana, Michigan, Minnesota, New York, Ohio, Pennsylvania, and Wisconsin.
Turner Syndrome
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.

Unmasking of a hemizygous WFS1 gene mutation by a chromosome 4p deletion of 8.3 Mb in a patient with Wolf-Hirschhorn syndrome. (1/17)

The Wolf-Hirschhorn syndrome (WHS (MIM 194190)), which is characterized by growth delay, mental retardation, epilepsy, facial dysmorphisms, and midline fusion defects, shows extensive phenotypic variability. Several of the proposed mutational and epigenetic mechanisms in this and other chromosomal deletion syndromes fail to explain the observed phenotypic variability. To explain the complex phenotype of a patient with WHS and features reminiscent of Wolfram syndrome (WFS (MIM 222300)), we performed extensive clinical evaluation and classical and molecular cytogenetic (GTG banding, FISH and array-CGH) and WFS1 gene mutation analyses. We detected an 8.3 Mb terminal deletion and an adjacent 2.6 Mb inverted duplication in the short arm of chromosome 4, which encompasses a gene associated with WFS (WFS1). In addition, a nonsense mutation in exon 8 of the WFS1 gene was found on the structurally normal chromosome 4. The combination of the 4p deletion with the WFS1 point mutation explains the complex phenotype presented by our patient. This case further illustrates that unmasking of hemizygous recessive mutations by chromosomal deletions represents an additional explanation for the phenotypic variability observed in chromosomal deletion disorders.  (+info)

Comprehensive analysis of Wolf-Hirschhorn syndrome using array CGH indicates a high prevalence of translocations. (2/17)

Wolf-Hirschhorn syndrome (WHS) is caused by deletions involving chromosome region 4p16.3. The minimal diagnostic criteria include mild-to-severe mental retardation, hypotonia, growth delay and a distinctive facial appearance. Variable manifestations include feeding difficulties, seizures and major congenital anomalies. Clinical variation may be explained by variation in the size of the deletion. However, in addition to having a deletion involving 4p16.3, previous studies indicate that approximately 15% of WHS patients are also duplicated for another chromosome region due to an unbalanced translocation. It is likely that the prevalence of unbalanced translocations resulting in WHS is underestimated since they can be missed using conventional chromosome analyses such as karyotyping and WHS-specific fluorescence in situ hybridization (FISH). Therefore, we hypothesized that some of the clinical variation may be due to an unrecognized and unbalanced translocation. Array comparative genomic hybridization (aCGH) is a new technology that can analyze the entire genome at a significantly higher resolution over conventional cytogenetics to characterize unbalanced rearrangements. We used aCGH to analyze 33 patients with WHS and found a much higher than expected frequency of unbalanced translocations (15/33, 45%). Seven of these 15 cases were cryptic translocations not detected by a previous karyotype combined with WHS-specific FISH. Three of these 15 cases had an unbalanced translocation involving the short arm of an acrocentric chromosome and were not detected by either aCGH or subtelomere FISH. Analysis of clinical manifestations of each patient also revealed that patients with an unbalanced translocation often presented with exceptions to some expected phenotypes.  (+info)

Growth charts for Wolf-Hirschhorn syndrome (0-4 years of age). (3/17)

Wolf-Hirschhorn syndrome is characterized by severe growth and mental retardation, microcephaly, seizures and 'Greek helmet' facies, caused by partial deletion of the short arm of chromosome 4. Growth charts are given from 0-4 years of age, based on the study of 101 individuals. Use of these specific growth charts is recommended, because standard growth charts are inapplicable for patients with WHS.  (+info)

LETM1, deleted in Wolf-Hirschhorn syndrome is required for normal mitochondrial morphology and cellular viability. (4/17)

Wolf-Hirschhorn syndrome (WHS) is a complex congenital syndrome caused by a monoallelic deletion of the short arm of chromosome 4. Seizures in WHS have been associated with deletion of LETM1 gene. LETM1 encodes for the human homologue of yeast Mdm38p, a mitochondria-shaping protein of unclear function. Here we show that human LETM1 is located in the inner membrane, exposed to the matrix and oligomerized in higher molecular weight complexes of unknown composition. Down-regulation of LETM1 did not disrupt these complexes, but led to DRP1-independent fragmentation of the mitochondrial network. Fragmentation was not associated with changes in the levels of respiratory chain complexes, or with obvious or latent mitochondrial dysfunction, but was recovered by nigericin, which catalyzes the electroneutral exchange of K+ against H+. Down-regulation of LETM1 caused 'necrosis-like' death, without activation of caspases and not inhibited by overexpression of Bcl-2. Primary fibroblasts from a WHS patient displayed reduced LETM1 mRNA and protein, but mitochondrial morphology was surprisingly unaffected, raising the question of whether and how WHS patients counteract the consequences of monoallelic deletion of LETM1. LETM1 highlights the relationship between mitochondrial ion homeostasis, integrity of the mitochondrial network and cell viability.  (+info)

Wolf-Hirschhorn syndrome facial dysmorphic features in a patient with a terminal 4p16.3 deletion telomeric to the WHSCR and WHSCR 2 regions. (5/17)

 (+info)

Pathophysiology of mitochondrial volume homeostasis: potassium transport and permeability transition. (6/17)

 (+info)

Multiple congenital malformations of Wolf-Hirschhorn syndrome are recapitulated in Fgfrl1 null mice. (7/17)

 (+info)

A Drosophila mutant of LETM1, a candidate gene for seizures in Wolf-Hirschhorn syndrome. (8/17)

 (+info)

I'm sorry for any confusion, but the term "wolves" is not a medical concept or disease; it refers to a species of large carnivores, Canis lupus, which are not relevant within a medical context.

I believe there may be some confusion in your question. "Wolves" are not a medical term, but rather they refer to a large canine species. If you're asking about a medical condition that might be referred to as "wolf," the closest possible term I could find is "wolfian development." This term refers to the development of structures in the human body that originate from the wolfian ducts during embryonic development, such as the epididymis, vas deferens, and seminal vesicles in males. However, I want to emphasize that this is not a common medical term and might not be what you're looking for.

A syndrome is a set of symptoms that collectively indicate a specific disease, disorder, or condition, often representing a common pathway or pattern of underlying physiological processes and/or anatomical abnormalities.

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.

I'm sorry for any confusion, but "Coyotes" is not a term used in medical definitions; it refers to a species of canine native to North America. If you have any questions about medical terminology or concepts, I would be happy to help with those!

"Coyotes" is not a medical term. It refers to a species of canine native to North America, also known as Canis latrans. They are often the subject of study in fields such as zoology and ecology. If you're looking for medical definitions or information, I would be happy to help with that instead!

Down Syndrome is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21, leading to developmental delays and characteristic physical features.

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 X, also known as Metabolic Syndrome, is a clustering of at least three of the following five medical conditions: abdominal obesity, high blood pressure, elevated fasting plasma glucose, high serum triglycerides, and low high-density lipoprotein (HDL) levels.

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.

Canidae is a family of mammals in the order Carnivora, characterized by a slender muzzle, large canine teeth, and non-retractile claws, which includes various species of dogs, wolves, foxes, and jackals, displaying diverse social behaviors and diets ranging from carnivorous to omnivorous.

Canidae is a biological family that includes dogs, wolves, foxes, and other members of the canine group. Canids are characterized by their long legs, narrow snouts, and sharp teeth adapted for hunting. They are generally social animals, often living in packs with complex hierarchies. Many species are known for their endurance and speed, as well as their strong sense of smell and hearing. Some members of this family are domesticated, such as dogs, while others remain wild and are sometimes kept as pets or used for hunting.

Nephrotic syndrome is a renal disorder characterized by heavy proteinuria, hypoalbuminemia, generalized edema, and hyperlipidemia, primarily caused by damage to the glomerular filtration barrier.

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.

Sjogren's syndrome is a systemic autoimmune disease characterized by lymphocytic infiltration of exocrine glands leading to keratoconjunctivitis sicca (dry eyes) and xerostomia (dry mouth), and sometimes involving other organs such as lungs, kidneys, and nervous system.

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.

The Great Lakes Region, from a medical perspective, can refer to the geographical area surrounding the Great Lakes (Erie, Huron, Michigan, Ontario, and Superior) which encompasses parts of Canada and United States, and is significant for its unique environmental factors, diverse population, and distinct health concerns including waterborne diseases, air pollution, vector-borne illnesses, and disparities in access to healthcare services.

I'm sorry for any confusion, but "Great Lakes Region" is not a medical term. It generally refers to a geographical region in North America, comprising eight U.S. states and the Canadian province of Ontario around the Great Lakes. These are Michigan, Wisconsin, Minnesota, Illinois, Indiana, Ohio, Pennsylvania, and New York. If you have any medical terms you'd like defined, I'd be happy to help!

Turner Syndrome is a genetic disorder characterized by the complete or partial absence of an X chromosome, typically affecting females and often resulting in short stature, ovarian dysfunction, webbed neck, and various other congenital anomalies.

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.

Wolf-Hirschhorn syndrome - WikipediaWolf-Hirschhorn syndrome - Wikipedia
"Wolf-Hirschhorn syndrome: MedlinePlus Genetics". medlineplus.gov. Retrieved 2023-10-10. "Wolf-Hirschhorn Syndrome - Symptoms, ... "Wolf-Hirschhorn Syndrome: Symptoms & Causes". Cleveland Clinic. Retrieved 2023-10-10. "Wolf-Hirschhorn syndrome: MedlinePlus ... Wolf-Hirschhorn syndrome is a microdeletion syndrome caused by a deletion within HSA band 4p16.3 of the short arm of chromosome ... Wolf-Hirschhorn syndrome (WHS) is a chromosomal deletion syndrome resulting from a partial deletion on the short arm of ...
https://en.wikipedia.org/wiki/Wolf%E2%80%93Hirschhorn_syndrome
Wolf-Hirschhorn syndrome: MedlinePlus GeneticsWolf-Hirschhorn syndrome: MedlinePlus Genetics
Wolf-Hirschhorn syndrome is a chromosomal condition. Explore symptoms, inheritance, genetics of this condition. ... medlineplus.gov/genetics/condition/wolf-hirschhorn-syndrome/ Wolf-Hirschhorn syndrome. ... Wolf-Hirschhorn syndrome and Pitt-Rogers-Danks syndrome. Am J Med Genet. 1998 Feb 17;75(5):541. doi: 10.1002/(sici)1096-8628( ... Bergemann AD, Cole F, Hirschhorn K. The etiology of Wolf-Hirschhorn syndrome. Trends Genet. 2005 Mar;21(3):188-95. doi: 10.1016 ...
https://medlineplus.gov/genetics/condition/wolf-hirschhorn-syndrome
Wolf-Hirschhorn Syndrome: Practice Essentials, Pathophysiology, EpidemiologyWolf-Hirschhorn Syndrome: Practice Essentials, Pathophysiology, Epidemiology
Cooper and Hirschhorn first documented Wolf-Hirschhorn syndrome in 1961. They described a child with midline fusion defects, ... encoded search term (Wolf-Hirschhorn Syndrome) and Wolf-Hirschhorn Syndrome What to Read Next on Medscape ... study of a patient with Wolf-Hirschhorn syndrome. FISH photograph shows deletion of a locus-specific probe for the Wolf- ... Wolf-Hirschhorn Syndrome. Updated: Jan 19, 2021 * Author: Santina A Zanelli, MD; Chief Editor: Luis O Rohena, MD, PhD, FAAP, ...
https://emedicine.medscape.com/article/950480-overview
Orphanet: Wolf Hirschhorn syndrome
Wolf-Hirschhorn syndrome. Disease definition A developmental disorder characterized by typical craniofacial features, prenatal ... Wolf-Hirschhorn syndrome (WHS) occurs more frequently in females than in males (2:1). ... Differential diagnosis includes many syndromes displaying growth failure, intellectual disability and/or facial dysmorphism ... such as Seckel, CHARGE, Smith-Lemli-Opitz, Opitz G/BBB, Williams, Rett, Angelman and Smith-Magenis syndromes. ...
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=280
Wolf-Hirschhorn Syndrome: Practice Essentials, Pathophysiology, EpidemiologyWolf-Hirschhorn Syndrome: Practice Essentials, Pathophysiology, Epidemiology
Cooper and Hirschhorn first documented Wolf-Hirschhorn syndrome in 1961. They described a child with midline fusion defects, ... encoded search term (Wolf-Hirschhorn Syndrome) and Wolf-Hirschhorn Syndrome What to Read Next on Medscape ... study of a patient with Wolf-Hirschhorn syndrome. FISH photograph shows deletion of a locus-specific probe for the Wolf- ... Wolf-Hirschhorn Syndrome. Updated: Jan 19, 2021 * Author: Santina A Zanelli, MD; Chief Editor: Luis O Rohena, MD, PhD, FAAP, ...
https://reference.medscape.com/article/950480-overview
Wolf-Hirschhorn syndromeWolf-Hirschhorn syndrome
4p deletion syndrome, 4p-syndrome, del (4p) syndrome, monosomy 4p, partial monosomy 4p, WHS Citable version for download in the ... Wolf-Hirschhorn syndrome ICD 10: Q 93.3 OMIM 194190, 602618, 602952, 604407, 605032, 605032, 605830, 606026 Synonyms: ... Folder Wolf-Hirschhorn syndrome Disease name: Wolf-Hirschhorn syndrome. ICD 10: Q 93.3. OMIM 194190, 602618, 602952, 604407, ... Synonyms: 4p deletion syndrome, 4p-syndrome, del (4p) syndrome, monosomy 4p, partial monosomy 4p, WHS ...
https://www.orphananesthesia.eu/en/rare-diseases/published-guidelines/wolf-hirschhorn-syndrome.html
Wolf-Hirschhorn Syndrome Differential Diagnoses
Cooper and Hirschhorn first documented Wolf-Hirschhorn syndrome in 1961. They described a child with midline fusion defects, ... encoded search term (Wolf-Hirschhorn Syndrome) and Wolf-Hirschhorn Syndrome What to Read Next on Medscape ... Battaglia A. Wolf-Hirschhorn (4p-) syndrome. Cassidy SB, Allanson JE. Management of genetic syndromes. Hoboken, NJ: John Wiley ... study of a patient with Wolf-Hirschhorn syndrome. FISH photograph shows deletion of a locus-specific probe for the Wolf- ...
https://emedicine.dev01.medscape.com/article/950480-differential
Coping with Wolf-Hirschhorn syndrome: quality of life and psychosocial features of family carers | Orphanet Journal of Rare...Coping with Wolf-Hirschhorn syndrome: quality of life and psychosocial features of family carers | Orphanet Journal of Rare...
Wolf-Hirschhorn Syndrome (WHS) is a rare, congenital disease characterized by a distinctive facial phenotype, seizures, ... Coping with Wolf-Hirschhorn syndrome: quality of life and psychosocial features of family carers. *Sarah Berrocoso. ORCID: ... Wolf-Hirschhorn syndrome. Description of a Spanish cohort of 51 cases and a literature review. Rev Neurol. 2017;64(9):393-400. ... Berrocoso, S., Amayra, I., Lázaro, E. et al. Coping with Wolf-Hirschhorn syndrome: quality of life and psychosocial features of ...
https://ojrd.biomedcentral.com/articles/10.1186/s13023-020-01476-8
Wolf-Hirschhorn Syndrome: Background, Pathophysiology, Epidemiology
Cooper and Hirschhorn first documented Wolf-Hirschhorn syndrome in 1961. They described a child with midline fusion defects, ... encoded search term (Wolf-Hirschhorn Syndrome) and Wolf-Hirschhorn Syndrome What to Read Next on Medscape ... Cooper and Hirschhorn first documented Wolf-Hirschhorn syndrome in 1961. [1] They described a child with midline fusion defects ... Battaglia A. Wolf-Hirschhorn (4p-) syndrome. Cassidy SB, Allanson JE. Management of genetic syndromes. Hoboken, NJ: John Wiley ...
https://reference.dev01.medscape.com/article/950480-overview
Wolf Hirschhorn Syndrome - Life Expectancy, Symptoms, Pictures, PrognosisWolf Hirschhorn Syndrome - Life Expectancy, Symptoms, Pictures, Prognosis
Wolf Hirschhorn Syndrome is a genetic disorder develops due to partial deletion of chromosome 4 at the short arm leads to ... Wolf-Hirschhorn Syndrome, WHS; Online Mendelian Inheritance in Man (OMIM). *Wolf-Hirschhorn Syndrome; wolfhirschhorn.org; ... wolfhirschhorn.org/about-wolf-hirschhorn-syndrome/. *Paradowska-Stolarz AM; Wolf-Hirschhorn syndrome (WHS) - literature review ... Wolf Hirschhorn Syndrome Definition. Wolf Hirschhorn Syndrome is a genetic disorder develops due to partial deletion of ...
https://syndromespedia.com/wolf-hirschhorn-syndrome.html
Wolf-Hirschhorn Syndrome - Childrens Health Issues - MSD Manual Consumer VersionWolf-Hirschhorn Syndrome - Children's Health Issues - MSD Manual Consumer Version
Wolf-Hirschhorn Syndrome - Learn about the causes, symptoms, diagnosis & treatment from the MSD Manuals - Medical Consumer ... Symptoms of Wolf-Hirschhorn Syndrome Symptoms of Wolf-Hirschhorn syndrome often include profound intellectual disability ... Wolf-Hirschhorn syndrome is a chromosomal deletion syndrome Overview of Chromosomal Deletion Syndromes Chromosomal deletion ... Wolf-Hirschhorn Syndrome (4p Minus Syndrome). By Nina N. Powell-Hamilton , MD, Sidney Kimmel Medical College at Thomas ...
https://www.msdmanuals.com/en-pt/home/children-s-health-issues/chromosome-and-gene-abnormalities/wolf-hirschhorn-syndrome
Effect of the size of the deletion and clinical manifestation in Wolf-Hirschhorn syndrome: Analysis of 13 patients with a de...Effect of the size of the deletion and clinical manifestation in Wolf-Hirschhorn syndrome: Analysis of 13 patients with a de...
Effect of the size of the deletion and clinical manifestation in Wolf-Hirschhorn syndrome: Analysis of 13 patients with a de ... Effect of the size of the deletion and clinical manifestation in Wolf-Hirschhorn syndrome: Analysis of 13 patients with a de ... Effect of the size of the deletion and clinical manifestation in Wolf-Hirschhorn syndrome: Analysis of 13 patients with a de ... T1 - Effect of the size of the deletion and clinical manifestation in Wolf-Hirschhorn syndrome: Analysis of 13 patients with a ...
https://research.uni-luebeck.de/en/publications/effect-of-the-size-of-the-deletion-and-clinical-manifestation-in-
malrotation Archives - Positive Exposure
Chromosome 4P-, Wolf-Hirschhorn Syndrome. Wolf-Hirschhorn syndrome (WHS) is an extremely rare chromosomal disorder caused by a ...
https://positiveexposure.org/related/tag/malrotation/
South S[au] - Search Results - PubMedSouth S[au] - Search Results - PubMed
Wolf-Hirschhorn syndrome: A review and update. Battaglia A, Carey JC, South ST. Battaglia A, et al. Among authors: south st. Am ... Psychopathy as an Emergent Interpersonal Syndrome: What Is the Function of Fearlessness? South SC. South SC. J Pers Disord. ...
https://pubmed.ncbi.nlm.nih.gov/?cmd=search&term=South+S%5Bau%5D&dispmax=50
InfectionsInfections
4p-, Wolf-Hirschhorn syndrome. Fragile X syndrome. Monosomy X. Tetrasomy 21. Triploidy. ... Split hand split foot syndrome. Thanatophoric dysplasia. Thanatophoric dysplasia, Type I. Thanatophoric dysplasia, 2nd ...
https://thefetus.net/content/articles/category=15
CordCord
4p-, Wolf-Hirschhorn syndrome. Fragile X syndrome. Monosomy X. Tetrasomy 21. Triploidy. ... Split hand split foot syndrome. Thanatophoric dysplasia. Thanatophoric dysplasia, Type I. Thanatophoric dysplasia, 2nd ...
https://thefetus.net/content/articles/category=35
Down Syndrome (Trisomy 21) - Childrens Health Issues - Merck Manuals Consumer VersionDown Syndrome (Trisomy 21) - Children's Health Issues - Merck Manuals Consumer Version
Down Syndrome (Trisomy 21) - Learn about the causes, symptoms, diagnosis & treatment from the Merck Manuals - Medical Consumer ... Cri-du-Chat Syndrome. Prader-Willi Syndrome. Wolf-Hirschhorn Syndrome. Down Syndrome (Trisomy 21) ... Men with Down syndrome are usually infertile, unless they have mosaic Down syndrome. People who have mosaic Down syndrome have ... Down Syndrome (Trisomy 21) (Downs Syndrome; Trisomy G). By Nina N. Powell-Hamilton , MD, Sidney Kimmel Medical College at ...
https://www.merckmanuals.com/en-pr/home/children-s-health-issues/chromosome-and-gene-abnormalities/down-syndrome-trisomy-21
List of projects - Fundación Ramón ArecesList of projects - Fundación Ramón Areces
Molecular basis of immune deficiency in Wolf-Hirschhorn Syndrome (4p-) 2016 Senior Researcher : César Cobaleda Hernández ... more information on Molecular basis of immune deficiency in Wolf-Hirschhorn Syndrome (4p-) ... Allan-Herndon-Dudley syndrome: molecular mechanisms and a therapeutic approach in the murine model of the disease 2011 ... Molecular foundations of the human ectodermic dysplasia syndrome 2006 Senior Researcher : Paloma Pérez Sánchez Research Centre ...
https://www.fundacionareces.es/fundacionareces/en/tratarAplicacionProyectoAgenda.do?filtroIdentificador=1987&filtroActivo=PR
List of projects - Fundación Ramón ArecesList of projects - Fundación Ramón Areces
Poster Gallery - The Morita Prize 2013 - IAPDPoster Gallery - The Morita Prize 2013 - IAPD
Wolf-Hirschhorn syndrome - novel and unreported oral findings. P12-318. A case report of subcutaneous emphysema during root ...
https://iapdworld.org/congress-3/poster-gallery/2013-seoul-congress/poster-gallery-the-morita-prize-2013-2/
Cody Dorman, who inspired a nation over his bond with a horse, diesCody Dorman, who inspired a nation over his bond with a horse, dies
Cody was born with Wolf-Hirschhorn syndrome, a genetic disorder that can leave a person without the ability to walk or ...
https://sports.yahoo.com/cody-dorman-inspired-nation-over-161001903.html
FOXP1-related intellectual disability syndrome: a recognisable entity | Journal of Medical Genetics
... although it has been observed in other entities including Wolf-Hirschhorn syndrome, Brugada syndrome, and long QT syndrome.38- ... A complex rearrangement associated with sex reversal and the Wolf-Hirschhorn syndrome: a cytogenetic and molecular study. J Med ... Female predominance and transmission distortion in the long-QT syndrome. N Engl J Med 2006;355:2744-51.doi:10.1056/NEJMoa042786 ... Ionic and cellular basis for the predominance of the Brugada syndrome phenotype in males. Circulation 2002;106:2004-11.doi: ...
https://jmg.bmj.com/content/54/9/613
Cody Dorman, who watched namesake horse win Breeders Cup race, dies on trip home | WREG.comCody Dorman, who watched namesake horse win Breeders' Cup race, dies on trip home | WREG.com
Dorman was born with the rare genetic disorder Wolf-Hirschhorn syndrome, and the effects include delayed growth and development ...
https://wreg.com/sports/ap-sports/ap-cody-dorman-who-watched-namesake-horse-win-breeders-cup-race-dies-on-trip-home/
Cody Dorman, who watched namesake horse win Breeders Cup race, dies on trip home | WKRN News 2Cody Dorman, who watched namesake horse win Breeders' Cup race, dies on trip home | WKRN News 2
Dorman was born with the rare genetic disorder Wolf-Hirschhorn syndrome, and the effects include delayed growth and development ...
https://www.wkrn.com/sports/ap-sports/ap-cody-dorman-who-watched-namesake-horse-win-breeders-cup-race-dies-on-trip-home/
Cody Dorman, who watched namesake horse win Breeders Cup race, dies on trip home | WLNS 6 NewsCody Dorman, who watched namesake horse win Breeders' Cup race, dies on trip home | WLNS 6 News
Dorman was born with the rare genetic disorder Wolf-Hirschhorn syndrome, and the effects include delayed growth and development ...
https://www.wlns.com/sports/ap-cody-dorman-who-watched-namesake-horse-win-breeders-cup-race-dies-on-trip-home/
Conditions and Diseases Health Australia OceaniaConditions and Diseases Health Australia Oceania
AWHSSG - Australian Wolf-Hirschhorn Syndrome Support Group, with reports from australia the biennial health conference held in ...
https://www.iaswww.com/apr/Regional/Oceania/Australia/Health/Conditions_and_Diseases/
The number 8The number 8
Download the Wolf-Hirschhorn Syndrome Growth Chart here.. *. Most Popular Topics. 1st Birthday 2011 Easter Birthday contest ...
http://wolfhirschhorn.org/2007/09/kendall/the-number-8/
In Her EyesIn Her Eyes
Download the Wolf-Hirschhorn Syndrome Growth Chart here.. *. Most Popular Topics. 1st Birthday 2011 Easter Birthday contest ...
http://wolfhirschhorn.org/2013/11/emily-rose/eyes/
Safe moving, handling, and rehabilitation of children | Guldmann United KingdomSafe moving, handling, and rehabilitation of children | Guldmann United Kingdom
... who has delayed motor development and hypotonia due to Wolf-Hirschhorn syndrome. ...
https://www.guldmann.com/uk/what-is-your-field-of-work/paediatric-care
Chromosome - WikipediaChromosome - Wikipedia
Wolf-Hirschhorn syndrome, which is caused by partial deletion of the short arm of chromosome 4. It is characterized by growth ... Most have a bleeding disorder called Paris-Trousseau syndrome.. *Klinefelter syndrome (XXY). Men with Klinefelter syndrome are ... Cat-eye syndrome and isodicentric chromosome 15 syndrome (or Idic15) are both caused by a supernumerary marker chromosome, as ... Patau Syndrome, also called D-Syndrome or trisomy-13. Symptoms are somewhat similar to those of trisomy-18, without the ...
https://en.wikipedia.org/wiki/Chromosome
TrisomyMicrodeletion syndromesOMIMPitt-Rogers-DanksGenotype-phenotype4p16.3Cases of Wolf-Hirschho1961Short arm of chromosomeGenesWHSC1HumangenetikDisorderDiseasesSuspected by chromosomalCharacteristic50,000WHSCRsCongenitalDiagnosisAutosomalWorkupPrevalenceAbnormalitiesDevelopmentalDeficiencyAngelmanDefectsSeizuresSupportiveEpilepsyProteinRareMalesSymptomsFemalesCandidateAffectsMildSpectrumFeaturesGrowthChild
Trisomy3
  • Down syndrome is a genetic disorder caused by trisomy of all or part of chromosome 21. (logicalimages.com)
  • Facial features at first sight suggestive of Wolf-Hirschhorn syndrome may be an additional, previously undescribed clinical sign in some patients with partial trisomy 22q. (uni-luebeck.de)
  • This was discovered after the naming of Down syndrome as trisomy 21, reflecting how this disease results from possessing one extra chromosome 21 (three total). (uniontestprep.com)
Microdeletion syndromes1
  • Faravelli F, Murdolo M, Marangi G, Bricarelli FD, Di Rocco M, Zollino M. Mother to son amplification of a small subtelomeric deletion: a new mechanism of familial recurrence in microdeletion syndromes. (medscape.com)
OMIM1
  • Online Mendelian Inheritance in Man (OMIM): Wolf-Hirschhorn syndrome - 194190 Rapini RP, Bolognia JL, Jorizzo JL (2007). (wikipedia.org)
Pitt-Rogers-Danks2
  • A condition called Pitt-Rogers-Danks syndrome has features that overlap with those of Wolf-Hirschhorn syndrome. (medlineplus.gov)
  • This gene is mapped to the 165 kb WHS critical region, and may play a role in the phenotype of the WHS or Pitt-Rogers-Danks syndrome. (nih.gov)
Genotype-phenotype3
  • Genotype-phenotype correlation in 21 patients with Wolf-Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH). (medscape.com)
  • Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome. (medscape.com)
  • Karen S. Ho, PhD began working on genotype-phenotype studies of Wolf-Hirschhorn syndrome with Drs. John Carey, Agatino Battaglia, and Amy Calhoun in 2012. (liv4thecure.org)
4p16.35
  • Wolf-Hirschhorn syndrome is a microdeletion syndrome caused by a deletion within HSA band 4p16.3 of the short arm of chromosome 4, particularly in the region of WHSCR1 and WHSCR2. (wikipedia.org)
  • Chromosomal microarray and Cytogenetic analysis.D4S96 or D4Z1 chromosome band 4p16.3-specific probe (Wolf-Hirschhorn region, Vysis, Inc) is available for FISH study. (wikipedia.org)
  • Engbers H, van der Smagt JJ, van 't Slot R, Vermeesch JR, Hochstenbach R, Poot M. Wolf-Hirschhorn syndrome facial dysmorphic features in a patient with a terminal 4p16.3 deletion telomeric to the WHSCR and WHSCR 2 regions. (medscape.com)
  • Wolf-Hirschhorn syndrome (WHS) is a rare chromosomal disorder caused by a partial deletion of chromosome 4 (4p16.3p16.2). (nih.gov)
  • Wolf-Hirschhorn syndrome (WHS) is a malformation syndrome associated with a hemizygous deletion of the distal short arm of chromosome 4 (4p16.3). (embl.de)
Cases of Wolf-Hirschho2
  • Between 85 and 90 percent of all cases of Wolf-Hirschhorn syndrome are not inherited. (medlineplus.gov)
  • Previously reported cases of Wolf-Hirschhorn syndrome have involved the deletion of D4S10. (bmj.com)
19612
  • Wolf-Hirschhorn syndrome was first described in 1961 by the Austrian-born American pediatrician Kurt Hirschhorn and his colleagues. (wikipedia.org)
  • Cooper and Hirschhorn first documented WHS in 1961. (medscape.com)
Short arm of chromosome7
  • The signs and symptoms of Wolf-Hirschhorn are related to the loss of multiple genes on the short arm of chromosome 4. (medlineplus.gov)
  • Scientists are working to identify additional genes at the end of the short arm of chromosome 4 that contribute to the characteristic features of Wolf-Hirschhorn syndrome. (medlineplus.gov)
  • Wolf-Hirschhorn syndrome (WHS) is a disorder caused by irregularities on the short arm of chromosome 4 (4p). (medscape.com)
  • A syndrome caused by large deletions of the telomereic end of the short arm of CHROMOSOME 4 (4p) in Wolf-Hirchhorn syndrome critial regions (WHSCRs). (jefferson.edu)
  • Wolf-Hirschhorn syndrome (WHS) is a complex genetic disorder caused by the loss of genomic material from the short arm of chromosome 4. (ox.ac.uk)
  • Wolf-Hirschhorn locus is distal to D4S10 on short arm of chromosome 4. (bmj.com)
  • We report a family in which Wolf-Hirschhorn syndrome in two children with partial monosomy of the short arm of chromosome 4 is the result of unbalanced segregation of a reciprocal 4;12 translocation in the mother. (bmj.com)
Genes3
  • The phenotypic characteristics of WHS are thought to be caused by the haploinsufficiency of the genes Wolf-Hirschhorn syndrome candidate 1 (WHSC1), which is associated with craniofacial features and growth delay, and Homo Sapiens leucine zipper-EF-hand containing transmembrane protein 1 (LETM1), which is associated with seizures. (wikipedia.org)
  • Deletions involving genes WHSC1 and LETM1 may be necessary, but are not sufficient to cause Wolf-Hirschhorn Syndrome. (ox.ac.uk)
  • Se han identificado varios genes candidatos, incluidos el WHSC1 y WHSC2 que parecen ser responsables de fenotipo central, y en combinación con otros genes ligados y no ligados determinan la gravedad e inclusión de los fenotipos más infrecuentes. (bvsalud.org)
WHSC12
  • Dissecting the Wolf-Hirschhorn syndrome phenotype: WHSC1 is a neurodevelopmental gene contributing to growth delay, intellectual disability, and to the facial dysmorphism. (medscape.com)
  • WHSC1, a 90 kb SET domain-containing gene, expressed in early development and homologous to a Drosophila dysmorphy gene maps in the Wolf-Hirschhorn syndrome critical region and is fused to IgH in t(4;14) multiple myeloma. (embl.de)
Humangenetik2
  • Thereafter, the syndrome gained worldwide attention after publications by the German geneticist Ulrich Wolf and his co-workers, specifically their articles in the German scientific magazine Humangenetik. (wikipedia.org)
  • In 1965, back-to-back publications in Humangenetik by Hirschhorn et al and Wolf et al brought the disease to the attention of geneticists and other medical professionals. (medscape.com)
Disorder4
  • Wolf-Hirschhorn syndrome (WHS) is a genetic disorder that affects many parts of the body. (nih.gov)
  • and Jacobsen syndrome , also called the terminal 11q deletion disorder. (wikipedia.org)
  • Dorman was born with the rare genetic disorder Wolf-Hirschhorn syndrome, and the effects include delayed growth and development, intellectual disability, low muscle tone and seizures. (ktsm.com)
  • Cally's 18-year-old daughter Amelie was diagnosed with rare chromosonal disorder Smith-Magenis Syndrome (SMS) at age three. (acast.com)
Diseases1
  • Diseases associated with NSD3 include Wolf-Hirschhorn Syndrome and Nut Midline Carcinoma. (antibodiesinc.com)
Suspected by chromosomal1
  • The diagnosis of Wolf-Hirschhorn syndrome may be suspected by chromosomal testing before birth or by the child's physical characteristics after birth. (msdmanuals.com)
Characteristic4
  • Researchers believe that the loss of the NSD2 gene can cause many of the characteristic features of Wolf-Hirschhorn syndrome, including the distinctive facial appearance and developmental delay. (medlineplus.gov)
  • A girl with Wolf-Hirschhorn syndrome showing characteristic features of the condition. (medscape.com)
  • Wolf-Hirschhorn syndrome - Characteristic facial appearance includes flat nasal bridge and high forehead referred to as "Greek warrior helmet" appearance. (logicalimages.com)
  • Cri-du-chat syndrome (5p minus [5p-] syndrome) - Infants often have a characteristic "catlike" cry. (logicalimages.com)
50,0003
  • The prevalence of Wolf-Hirschhorn syndrome is estimated to be 1 in 50,000 births. (medlineplus.gov)
  • Wolf-Hirschhorn affects one in 50,000 babies. (westernnebraskaobserver.net)
  • Anna has Wolf-Hirschhorn Syndrome, a rather rare genetic condition, affecting one in 50,000. (synonyms.com)
WHSCRs1
  • Síndrome causado por grandes supresiones de la extremidad telomérica del brazo corto del CROMOSOMA 4 (4p) en las regiones críticas del síndrome de Wolf-Hirschhorn (WHSCRs). (bvsalud.org)
Congenital3
  • Chris is a divorced dad of three kids one of whom, Luca, has Wolf Hirschhorn Syndrome, a rare congenital disease. (21stcenturydads.org)
  • Wolf-Hirschhorn syndrome (WHS) is caused by a deletion of the short arm on chromosome 4 and is characterized by multiple congenital abnormalities, growth and mental retardation. (koreamed.org)
  • Wolf-Hirschhorn Syndrome (WHS) is a rare, congenital disease characterized by a distinctive facial phenotype, seizures, intellectual disability and developmental delay, and pre and postnatal growth requiring lifelong care. (open.ac.uk)
Diagnosis3
  • Physical examination helps in the diagnosis of specific epileptic syndromes that cause abnormal findings, such as dermatologic abnormalities (eg, patients with intractable generalized tonic-clonic seizures for years are likely to have injuries requiring stitches). (medscape.com)
  • Video-EEG monitoring is the standard test for classifying the type of seizure or syndrome or to diagnose pseudoseizures (ie, to establish a definitive diagnosis of spells with impairment of consciousness). (medscape.com)
  • Selection of an anticonvulsant medication depends on an accurate diagnosis of the epileptic syndrome. (medscape.com)
Autosomal2
  • ARHGAP31 -, DLL4-, NOTCH1-, and RBPJ- related Adams-Oliver syndrome (AOS) are inherited in an autosomal dominant manner. (nih.gov)
  • Of the 49 babies with multiple malformations, 21 (42.8%) had recog- nized syndromes, most of which were autosomal recessive and 17 had chromosomal aberrations. (who.int)
Workup1
  • This technique is also used to characterize the type of seizure and epileptic syndrome to optimize pharmacologic treatment and for presurgical workup. (medscape.com)
Prevalence1
  • Comprehensive analysis of Wolf-Hirschhorn syndrome using array CGH indicates a high prevalence of translocations. (medscape.com)
Abnormalities1
  • Wolf-Hirschhorn syndrome can also cause abnormalities of the eyes, heart, and genitourinary tract. (medlineplus.gov)
Developmental2
  • Rutherford EL, Lowery LA. Exploring the developmental mechanisms underlying Wolf-Hirschhorn Syndrome: Evidence for defects in neural crest cell migration. (medscape.com)
  • Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation. (medscape.com)
Deficiency1
Angelman1
  • Angelman syndrome - Clinical clues may include severe language impairment, happy demeanor, hand-flapping, and ataxia. (logicalimages.com)
Defects2
  • Cooper H, Hirschhorn K. Apparent deletion of short arms of one chromosome (4 or 5) in a child with defects of midline fusion. (medscape.com)
  • Adams-Oliver syndrome (AOS) is characterized by aplasia cutis congenita (ACC) of the scalp and terminal transverse limb defects (TTLD). (nih.gov)
Seizures1
  • She has published papers on a candidate seizure gene in the 4p region as well as on potential treatments for Wolf-Hirschhorn related seizures. (liv4thecure.org)
Supportive1
Epilepsy1
  • Spectrum of epilepsy and electroencephalogram patterns in Wolf-Hirschhorn syndrome: experience with 87 patients. (medscape.com)
Protein1
  • LETM1, a gene deleted in Wolf-Hirschhorn syndrome, encodes an evolutionarily conserved mitochondrial protein. (medscape.com)
Rare1
Males1
  • For unknown reasons, Wolf-Hirschhorn syndrome occurs in about twice as many females as males. (medlineplus.gov)
Symptoms2
  • When Do Symptoms of Wolf-Hirschhorn syndrome Begin? (nih.gov)
  • Researchers now recognize that these two conditions are actually part of a single syndrome with variable signs and symptoms. (medlineplus.gov)
Females1
  • Rett syndrome - This is almost exclusively seen in females and characterized by postnatal microcephaly and regression of language and purposeful hand movements in early childhood. (logicalimages.com)
Candidate1
  • 14. Wolf-Hirschhorn syndrome candidate 1-like 1 epigenetically regulates nephrin gene expression. (nih.gov)
Affects1
  • Wolf-Hirschhorn syndrome is a condition that affects many parts of the body. (medlineplus.gov)
Mild2
  • Intellectual disability ranges from mild to severe in people with Wolf-Hirschhorn syndrome. (medlineplus.gov)
  • Hannes F, Hammond P, Quarrell O, Fryns JP, Devriendt K, Vermeesch JR. A microdeletion proximal of the critical deletion region is associated with mild Wolf-Hirschhorn syndrome. (medscape.com)
Spectrum1
  • A syndrome that is considered as part of the spectrum of Wolf-Hirschhorn Syndrome variability. (nih.gov)
Features1
  • Cognitive-behavioral features of Wolf-Hirschhorn syndrome and other subtelomeric microdeletions. (medscape.com)
Growth3
  • People with Wolf-Hirschhorn syndrome experience delayed growth and development. (medlineplus.gov)
  • Antonius T, Draaisma J, Levtchenko E, Knoers N, Renier W, van Ravenswaaij C. Growth charts for Wolf-Hirschhorn syndrome (0-4 years of age). (medscape.com)
  • Download the Wolf-Hirschhorn Syndrome Growth Chart here. (wolfhirschhorn.org)
Child1