Otopalatodigital syndrome type I

Last revised by Henry Knipe on 18 Aug 2024

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

  • skeletal dysplasia

  • hearing loss

  • cleft palate

  • characteristic face: hypertelorism, broad nasal root, prominent supraorbital ridges, small flat nose and down-slanted palpebral fissures)

It is a member of a group of related conditions called otopalatodigital spectrum disorders that also include:

:

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