Joubert syndrome and related disorders Syndrome or malformation associated with head and neck malformations Genetic branchial arch or oral-acral syndrome Rare genetic intellectual disability with developmental anomaly Genetic syndrome with a cerebellar malformation as major feature Joubert syndrome with orofaciodigital defect OMIM:300804 OMIM:277170 ICD10:Q04.3 Váradi-Papp syndrome OMIM:615665 Oral-facial-digital syndrome type 6 Váradi syndrome Polydactyly - cleft lip/palate - psychomotor retardation UMLS:C2745997 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, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly. Joubert syndrome with oral-facial-digital syndrome OFD6 Orofaciodigital syndrome type 6 orphanet OMIM:614815 Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy Syndromic genetic deafness