Orofaciodigital syndrome type 2
ORPHA:2751· ICD-10 Q87.0
Definition
A rare developmental disorder in the ciliopathy group characterized by craniofacial, oral and digital features.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Infancy, Neonatal