Orofaciodigital syndrome type 6
ORPHA:2754· ICD-10 Q04.3
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.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal recessive, X-linked recessive
- Age of onset
- Infancy, Neonatal