Orofaciodigital syndrome type 6

What is 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, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly.

Other condition names

  • Joubert syndrome with oral-facial-digital syndrome
  • Joubert syndrome with orofaciodigital defect
  • OFD6
  • Oral-facial-digital syndrome type 6
  • Polydactyly-cleft lip/palate-psychomotor retardation syndrome
  • Váradi syndrome
  • Váradi-Papp syndrome

Inheritance type

Autosomal recessive, X-linked recessive


  • Worldwide: <1 in 1,000 000

Age of Onset

  • Infancy
  • Neonatal
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on "https://www.orphadata.com". Data version 1.3.16 / 4.1.7.