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
Prevalence
- 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.