Conditions / Musculoskeletal
acrofrontofacionasal dysostosis
info · Musculoskeletal
A dysostosis characterized by intellectual disability, short stature, hypertelorism, broad notched nasal tip, cleft lip palate, postaxial camptobrachypolysyndactyly, fibular hypoplasia and anomalies of foot structure.
Signs and symptoms
- Short stature
- Hypertelorism
- Intellectual disability
- Small nail
- Acetabular dysplasia
- Short metacarpal
- Short distal phalanx of finger
- Broad forehead
- Wide mouth
- Cleft palate
Also known as: AFFN dysostosis; Richieri-Costa-Colletto syndrome