Otopalatodigital syndrome (Q51199): Difference between revisions
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A síndrome otopalatodigital (OPD) é um transtorno genético raro marcado pela associação de displasia esquelética, perda auditiva, fenda palatina e uma face característica (com hipertelorismo, base nasal larga, cristas supraorbitais proeminentes, pequeno nariz achatado e fissuras palpebrais inclinadas para baixo). Mais de 30 casos foram relatados. Dois tipos de OPD foram descritos (OPD 1 e OPD2); o tipo 2 é mais grave. | |||
| description / en | description / en | ||
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. | |||
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 |
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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. |
