Otopalatodigital syndrome (Q51199): Difference between revisions

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Latest revision as of 22:21, 13 August 2026

Otopalatodigital (OPD) syndrome 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). More than 30 cases have been reported. Two types of OPD have been described (OPD 1 and OPD2); type 2 is more severe.

Language	Label	Description	Also known as
default for all languages	ID_1506946342
English	Otopalatodigital syndrome	Otopalatodigital (OPD) syndrome 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). More than 30 cases have been reported. Two types of OPD have been described (OPD 1 and OPD2); type 2 is more severe.