multiple epiphyseal dysplasia 4

info · Genetic

A multiple epiphyseal dysplasia that has_material_basis_in homozygous mutation in the SLC26A2 gene on chromosome 5q32.

Signs and symptoms

Double-layered patella
Hip dysplasia
Scoliosis
Talipes equinovarus
Brachydactyly
Short stature
Flat capital femoral epiphysis
Short metacarpal
Arthralgia
Limited elbow flexion

Also known as: EDM4; MED4; Polyepiphyseal dysplasia type 4; multiple epiphyseal dysplasia with bilateral patellae; multiple epiphyseal dysplasia with clubfoot