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-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

Below are MeSH descriptors whose meaning is more general than "Wolf-Hirschhorn Syndrome".

Below are MeSH descriptors whose meaning is related to "Wolf-Hirschhorn Syndrome".

Below are MeSH descriptors whose meaning is more specific than "Wolf-Hirschhorn Syndrome".