Orofaciodigital syndrome type 4
ORPHA:2753· ICD-10 Q87.0
Definition
A rare developmental disorder of the ciliopathy group characterized by postaxial polydactyly, mesomelic shortening of the legs (tibial hypoplasia), nonspecific orofacial features, and variable involvement of viscera (kidneys, liver) and the central nervous system.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Infancy, Neonatal