Conditions / Musculoskeletal
acrofacial dysostosis Rodriguez type
info · Musculoskeletal
An acrofacial dysostosis that is characterized by CNS malformations, lung anomalies, congenital heart defects, dysmorphic facies and limb reduction, and has_material_basis_in autosomal recessive inheritance.
Signs and symptoms
- Triphalangeal thumb
- Fibular hypoplasia
- Absent forearm
- Short stature
- Wide anterior fontanel
- Narrow mouth
- Hypertelorism
- Single transverse palmar crease
- Overlapping toe
- 11 pairs of ribs
Also known as: acrofacial dysostosis, syndrome of Rodriguez