Otopalatodigital syndrome (Q51199)
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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 |
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| 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. |
Statements
CID11:ID_1506946342
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dki-india-ID_1506946342
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Concluído
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13 August 2026
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