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Disease Wolf-Hirschhorn Syndrome

Name Wolf-Hirschhorn Syndrome
Synonyms 4p Deletion Syndrome | 4p- Syndrome | 4p Syndrome, Chromosome | 4p Syndromes, Chromosome | CHROMOSOME 4p16.3 DELETION SYNDROME | Chromosome 4p Deletion Syndrome | Chromosome 4p Monosomy | Chromosome 4p Syndrome | Chromosome 4p Syndromes | Del(4p) Syndrome | Mental Retardation, Unusual Facies, And Intrauterine Growth Retardation | Partial Monosomy 4p | Pitt Rogers Danks Syndrome | Pitt-Rogers-Danks Syndrome | Pitt Syndrome | Pitt Syndromes | PRDS | Syndrome, Chromosome 4p | Syndrome, Pitt | Syndrome, Pitt-Rogers-Danks | Syndromes, Chromosome 4p | Syndromes, Pitt | Syndrome, Wolf | Syndrome, Wolf-Hirchhorn | Syndrome, Wolf-Hirschhorn | WHS | WITTWER SYNDROME | Wolf Hirchhorn Syndrome | Wolf-Hirchhorn Syndrome | Wolf Hirschhorn Syndrome | Wolf Syndrome
Definition 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.
Categories Congenital abnormality | Genetic disease (inborn)
MeSH® ID D054877
OMIM® ID 194190
External Links
DO
DOID:0050460

Top ↑ Ancestors

1. Diseases ← Congenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references ← Congenital Abnormalities Has associated chemicals Has associated genes Has associated exposure references ← Abnormalities, Multiple Has associated chemicals Has associated genes ← Wolf-Hirschhorn Syndrome Has associated chemicals Has associated genes
2. Diseases ← Congenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references ← Congenital Abnormalities Has associated chemicals Has associated genes Has associated exposure references ← Chromosome Disorders Has associated chemicals Has associated genes ← Wolf-Hirschhorn Syndrome Has associated chemicals Has associated genes
3. Diseases ← Congenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references ← Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references ← Chromosome Disorders Has associated chemicals Has associated genes ← Wolf-Hirschhorn Syndrome Has associated chemicals Has associated genes

Top ↑ Descendants

None.