"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
|
MeSH Number(s) |
C16.131.077.944 C16.131.260.985 C16.320.180.985
|
Concept/Terms |
Wolf-Hirschhorn Syndrome- Wolf-Hirschhorn Syndrome
- Syndrome, Wolf-Hirschhorn
- Wolf Hirschhorn Syndrome
- Wolf Syndrome
- Syndrome, Wolf
- Wolf-Hirchhorn Syndrome
- Syndrome, Wolf-Hirchhorn
- Wolf Hirchhorn Syndrome
- Partial Monosomy 4p
- 4p- Syndrome
- Chromosome 4p Deletion Syndrome
- Chromosome 4p Monosomy
- Del(4p) Syndrome
- Chromosome 4p Syndrome
- 4p Syndrome, Chromosome
- 4p Syndromes, Chromosome
- Chromosome 4p Syndromes
- Syndrome, Chromosome 4p
- Syndromes, Chromosome 4p
- 4p Deletion Syndrome
Pitt-Rogers-Danks Syndrome- Pitt-Rogers-Danks Syndrome
- Pitt Rogers Danks Syndrome
- Syndrome, Pitt-Rogers-Danks
- Mental Retardation, Unusual Facies, And Intrauterine Growth Retardation
- Pitt Syndrome
- Pitt Syndromes
- Syndrome, Pitt
- Syndromes, Pitt
|
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 this website by year, and whether "Wolf-Hirschhorn Syndrome" was a major or minor topic of these publications.
To see the data from this visualization as text,
click here.
Below are the most recent publications written about "Wolf-Hirschhorn Syndrome" by people in Profiles.