Conditions / Genetic
multiple epiphyseal dysplasia 7
info · Genetic
A multiple epiphyseal dysplasia that has_material_basis_in homozygous mutation in the CANT1 gene on chromosome 17q25.
Signs and symptoms
- Short femoral neck
- Genu varum
- Advanced ossification of carpal bones
- Platyspondyly
- Vertebral wedging
- Monkey wrench femoral neck
- Epiphyseal dysplasia
- Flat acetabular roof
- Mild short stature
- Hypoplasia of the capital femoral epiphysis
Also known as: EDM7