Orofaciodigital syndrome type 6

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, Varadi syndrome, Varadi-Papp syndrome, oral-facial-digital syndrome type 6, orofaciodigital syndrome VI, orofaciodigital syndrome type 6

1 clinical trial for this condition and its sub-types, 0 tagged with Orofaciodigital syndrome type 6 itself.