Orofaciodigital syndrome type 6
Orofaciodigital syndrome type 6
Definition
Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly.
Also known as Joubert syndrome with oral-facial-digital syndrome, Joubert syndrome with orofaciodigital defect, OFD6, oral-facial-digital syndrome type 6, orofaciodigital syndrome type 6, orofaciodigital syndrome VI, polydactyly-cleft lip/palate-psychomotor retardation syndrome, Varadi syndrome, Varadi-Papp syndrome — per MONDO