Conditions / Genetic
spondyloepiphyseal dysplasia Kimberley type
info · Genetic
A spondyloepiphyseal dysplasia that has_material_basis_in heterozygous mutation in the ACAN gene on chromosome 15q26.1.
Signs and symptoms
- Delayed skeletal maturation
- Genu varum
- Platyspondyly
- Flat capital femoral epiphysis
- Proportionate short stature
- Genu valgum
- Spondyloepiphyseal dysplasia
Also known as: SEDK