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.
Wolf-Hirschhorn 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.
