Conditions / Musculoskeletal
Cenani-Lenz syndactyly syndrome
info · Musculoskeletal · ICD-10: Q78.4
A dysostosis characterized by syndactyly, malformation of the forearm and lower limb bones, renal hypoplasia or aplasia and that has_material_basis_in homozygous or compound heterozygous mutation in the LRP4 gene on chromosome 11p11.
Signs and symptoms
- Metacarpal synostosis
- Syndactyly
- Anonychia
- Prominent forehead
- Radioulnar synostosis
- Hypertelorism
- Hypoplasia of the ulna
- Malar flattening
- Hypoplasia of the radius
- Micrognathia
Also known as: syndactyly type 7