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Wolf-Hirschhorn Syndrome MeSH Descriptor Data 2024

MeSH Heading
Wolf-Hirschhorn Syndrome
Tree Number(s)
Unique ID
RDF Unique Identifier
Scope Note
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.
Entry Term(s)
4p Deletion Syndrome
4p- Syndrome
Chromosome 4p Deletion Syndrome
Chromosome 4p Monosomy
Chromosome 4p Syndrome
Del(4p) Syndrome
Mental Retardation, Unusual Facies, And Intrauterine Growth Retardation
Partial Monosomy 4p
Pitt Syndrome
Pitt-Rogers-Danks Syndrome
Wolf Syndrome
Wolf-Hirchhorn Syndrome
Previous Indexing
Abnormalities, Multiple (1970-2007)
Chromosome Deletion (1978-2007)
Public MeSH Note
History Note
Date Established
Date of Entry
Revision Date
Wolf-Hirschhorn Syndrome Preferred
Pitt-Rogers-Danks Syndrome Narrower
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