/orofaciodigital syndrome type 6

orofaciodigital syndrome type 6

Rare Disease

MONDO:0010176

Also Known As

Joubert syndrome with oral-facial-digital syndromeJoubert syndrome with orofaciodigital defectOFD6Varadi syndromeVaradi-Papp syndromeoral-facial-digital syndrome type 6orofaciodigital syndrome VIorofaciodigital syndrome type 6polydactyly-cleft lip/palate-psychomotor retardation syndromeOfds 6Váradi syndromeVáradi-Papp syndromeoral-Facial-digital syndrome, type 6orofaciodigital syndrome 6polydactyly - cleft lip/palate - psychomotor retardationpolydactyly cleft lip palate psychomotor retardationpolydactyly, cleft Lip/palate or lingual lump, and psychomotor retardation

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.