Conditions / Genetic
multiple epiphyseal dysplasia 2
info · Genetic
A multiple epiphyseal dysplasia due to collagen 9 anomaly that has_material_basis_in heterozygous mutation in the COL9A2 gene on chromosome 1p34.
Signs and symptoms
- Epiphyseal dysplasia
- Knee pain
- Short palm
- Knee osteoarthritis
- Flattened epiphysis
- Small epiphyses
- Fatigue
- Irregular epiphyses
- Waddling gait
- Flattened knee epiphyses
Also known as: EDM2