Catalog

Oral-facial-digital syndrome type 6

No MMS code

Link to WHO Definition

Oral-facial-digital syndrome type 6 – http://id.who.int/icd/entity/1990646046

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.