Wolf-Hirschhorn Syndrome

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.

Also Known As:

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; 4p Syndrome, Chromosome; 4p Syndromes, Chromosome; Chromosome 4p Syndromes; Pitt Rogers Danks Syndrome; Pitt Syndromes; Syndrome, Chromosome 4p; Syndrome, Pitt; Syndrome, Pitt-Rogers-Danks; Syndrome, Wolf; Syndrome, Wolf-Hirchhorn; Syndrome, Wolf-Hirschhorn; Syndromes, Chromosome 4p; Syndromes, Pitt; Wolf Hirchhorn Syndrome; Wolf Hirschhorn Syndrome

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Multiple Abnormalities: 211
    - Wolf-Hirschhorn Syndrome: 104
  - Chromosome Disorders: 136
    - Wolf-Hirschhorn Syndrome: 104
- Inborn Genetic Diseases: 11939
  - Chromosome Disorders: 136
    - Wolf-Hirschhorn Syndrome: 104

I Stec Selected Research

I Stec Research Topics

Disease

Drug/Important Bio-Agent (IBA)