Conditions / Genetic

X-linked spondyloepimetaphyseal dysplasia

info · Genetic

A spondyloepimetaphyseal dysplasia that has_material_basis_in hemizygous mutation in BGN on chromosome Xq28.

Signs and symptoms

  • Brachydactyly
  • Waddling gait
  • Genu varum
  • Platyspondyly
  • Lumbar hyperlordosis
  • Joint hypermobility
  • Broad phalanx
  • Limited elbow extension
  • Short foot
  • Hypoplasia of the odontoid process

Also known as: SEMD X-linked; SEMDX