Description

Wolf-Hirschhorn syndrome (WHS) is a developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia. The disease has an estimated prevalence of 1:50,000 births. WHS occurs more frequently in females than in males (2:1). The Syndrome is due to a deletion in the short arm of the 4th chromosome (4p16.3 region), including at least part of the LETM1 and WHSC1 genes. Deletions greater than 3 Mb seem to be associated with higher risk of heart defects and cleft palate.

External Information

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