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Wolf-Hirschhorn Syndrome MeSH Descriptor Data 2022


MeSH Heading
Wolf-Hirschhorn Syndrome
Tree Number(s)
C16.131.077.944
C16.131.260.985
C16.320.180.985
Unique ID
D054877
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D054877
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
2008
History Note
2008
Date Established
2008/01/01
Date of Entry
2007/07/09
Revision Date
2013/07/08
Wolf-Hirschhorn Syndrome Preferred
Pitt-Rogers-Danks Syndrome Narrower
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