Wolf-Hirschhorn Syndrome


4p Deletion Syndrome

4p Syndrome, Chromosome

4p Syndromes, Chromosome

4p- 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 Syndrome

Pitt Syndromes

Pitt-Rogers-Danks Syndrome

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

Wolf Syndrome

Wolf-Hirchhorn 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.