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