Conditions / Genetic

multiple epiphyseal dysplasia 1

info · Genetic

A multiple epiphyseal dysplasia that has_material_basis_in heterozygous mutation in the COMP gene on chromosome 19p13.

Signs and symptoms

  • Delayed epiphyseal ossification
  • Ankle pain
  • Irregular epiphyses
  • Epiphyseal dysplasia
  • Limited hip movement
  • Pes planus
  • Mild short stature
  • Irregular vertebral endplates
  • Severe short stature
  • Avascular necrosis of the capital femoral epiphysis

Also known as: EDM1; MED1; multiple epiphyseal dysplasia COMP-related; polyepiphyseal dysplasia type 1