Otopalatodigital syndrome type I

Otopalatodigital syndrome type I is a rare genetic disorder marked by the association of

  • skeletal dysplasia
  • hearing loss
  • cleft palate
  • and a characteristic face (with hypertelorism, broad nasal root, prominent supraorbital ridges, small flat nose and downslanted palpebral fissures). 

It is a member of a group of related conditions called otopalatodigital spectrum disorders, which also includes