Oral-facial-digital syndrome type 6 (Q59118): Difference between revisions
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A síndrome de Joubert com deficiência orofaciodigital é um subtipo muito raro de distúrbios relacionados à síndrome de Joubert (JSRD, consulte este termo), caracterizada pelos aspectos neurológicos de JS associados a anomalias orofaciais e frequentemente polidactilia. Os achados orais típicos incluem língua bífida ou lobulada, hamartomas linguais e múltiplas frênulas orais, mas fenda labial ou palatina também podem estar presentes. A polidactilia é tipicamente mesaxial com metacarpos em forma de Y, mas também pode ser pré-axial ou pós-axial. | |||
| description / en | description / en | ||
Joubert syndrome with orofaciodigital defect is a very rare subtype of Joubert syndrome related disorders (JSRD, see this term) characterised by the neurological features of JS associated with orofacial anomalies and often polydactyly. Typical oral findings include bifid or lobulated tongue, lingual hamartomas and multiple oral frenulae, but cleft lip and/or palate can also be present. Polydactyly is typically mesaxial with Y-shaped metacarpals, but can also be preaxial or postaxial. | |||
Revision as of 06:39, 14 August 2026
Joubert syndrome with orofaciodigital defect is a very rare subtype of Joubert syndrome related disorders (JSRD, see this term) characterised by the neurological features of JS associated with orofacial anomalies and often polydactyly. Typical oral findings include bifid or lobulated tongue, lingual hamartomas and multiple oral frenulae, but cleft lip and/or palate can also be present. Polydactyly is typically mesaxial with Y-shaped metacarpals, but can also be preaxial or postaxial.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1990646046 |
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| English | Oral-facial-digital syndrome type 6 |
Joubert syndrome with orofaciodigital defect is a very rare subtype of Joubert syndrome related disorders (JSRD, see this term) characterised by the neurological features of JS associated with orofacial anomalies and often polydactyly. Typical oral findings include bifid or lobulated tongue, lingual hamartomas and multiple oral frenulae, but cleft lip and/or palate can also be present. Polydactyly is typically mesaxial with Y-shaped metacarpals, but can also be preaxial or postaxial. |
