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

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Article Information

rID: 23291
Section: Syndromes
Synonyms or Alternate Spellings:
  • Oto-palato-digital syndrome type I
  • Otopalatodigital syndrome type 1
  • Type 1 otopalatodigital syndrome

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