Wolf-Hirschhorn Syndrome
"Wolf-Hirschhorn Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
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). Several candidate genes have been identified including WHSC1 and WHSCH2 which appear to be responsible for the core phenotype and in combination with other linked and unlinked genes determine the severity and inclusion of rarer phenotypes. Most cases have a characteristic cranio-facial defect often referred to as "Greek helmet face" - a combined result of MICROCEPHALY, broad forehead, prominent glabella, HYPERTELORISM, high arched eyebrows, short philtrum and micrognathia. In addition there is mental retardation, growth delays, EPILEPSY, and frequently a wide range of midline and skeletal defects, including HYPOSPADIAS; CONGENITAL HEART DEFECTS; CLEFT LIP; CLEFT PALATE; colobomata; CLUBFOOT; clinodactyly; SCOLIOSIS; and KYPHOSIS.
Descriptor ID |
D054877
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MeSH Number(s) |
C16.131.077.944 C16.131.260.985 C16.320.180.985
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Concept/Terms |
Wolf-Hirschhorn Syndrome- Wolf-Hirschhorn Syndrome
- Syndrome, Wolf-Hirschhorn
- Wolf Hirschhorn Syndrome
- Wolf-Hirchhorn Syndrome
- Syndrome, Wolf-Hirchhorn
- Wolf Hirchhorn Syndrome
- Wolf-Hirschhorn Chromosome Region
- Chromosome Region, Wolf-Hirschhorn
- Chromosome Regions, Wolf-Hirschhorn
- Region, Wolf-Hirschhorn Chromosome
- Regions, Wolf-Hirschhorn Chromosome
- Wolf Hirschhorn Chromosome Region
- Wolf-Hirschhorn Chromosome Regions
Pitt-Rogers-Danks Syndrome- Pitt-Rogers-Danks Syndrome
- Pitt Rogers Danks Syndrome
- Syndrome, Pitt-Rogers-Danks
- Pitt Syndrome
- Pitt Syndromes
- Syndrome, Pitt
- Syndromes, Pitt
- Mental Retardation, Unusual Facies, And Intrauterine Growth Retardation
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Below are MeSH descriptors whose meaning is more general than "Wolf-Hirschhorn Syndrome".
Below are MeSH descriptors whose meaning is more specific than "Wolf-Hirschhorn Syndrome".
This graph shows the total number of publications written about "Wolf-Hirschhorn Syndrome" by people in UAMS Profiles by year, and whether "Wolf-Hirschhorn Syndrome" was a major or minor topic of these publications.
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Year | Major Topic | Minor Topic | Total |
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2008 | 1 | 0 | 1 |
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Below are the most recent publications written about "Wolf-Hirschhorn Syndrome" by people in Profiles over the past ten years.
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