Preferred Label : Oral-facial-digital syndrome type 6;
ICD-11 definition : Joubert syndrome with orofaciodigital defect is a very rare subtype of Joubert syndromerelated
disorders (JSRD, see this term) characterized 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.;
ICD-11 synonym : Joubert syndrome with orofaciodigital defect;
Origin ID : 1990646046;
Currated CISMeF NLP mapping
Joubert syndrome with orofaciodigital defect is a very rare subtype of Joubert syndromerelated
disorders (JSRD, see this term) characterized 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.
