Otopalatodigital Syndrome Type 1

**Semantic type:** Disease or Syndrome

**Definition:** A rare, X-linked dominant inherited syndrome caused by mutations in the FLNA gene. It is characterized by hearing loss caused by malformations in the ossicles, cleft palate, wide-set eyes, prominent brow ridges, small and flat nose, and skeletal abnormalities in the fingers and toes. Males usually experience more severe symptoms than females.