Parents

Sifrim-Hitz-Weiss syndrome (SIHIWES) is a rare genetic condition associated with developmental delay and congenital anomalies. We currently have clinical information from 31 individuals with the disorder. The oldest is 31 years old. SIHIWES is a dominant disorder – most cases are caused by de novo (new) variants in the CHD4 gene. We know of one family with suspected inherited SIHIWES from an affected mother.