Otopalatodigital syndrome type I

Last revised by David Luong on 24 Jun 2021

Otopalatodigital syndrome type I is a rare genetic disorder characterized by:

  • 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 that also include:

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