Conditions / Genetic
multiple epiphyseal dysplasia 5
info · Genetic
A multiple epiphyseal dysplasia that has_material_basis_in heterozygous mutation in the MATN3 gene on chromosome 2p24.
Signs and symptoms
- Short metacarpal
- Hip pain
- Short femoral neck
- Broad femoral neck
- Arthralgia of the hip
- Metaphyseal irregularity
- Premature osteoarthritis
- Small epiphyses
- Hypoplasia of the capital femoral epiphysis
- Arthralgia
Also known as: BHMED; EDM5; bilateral hereditary microepiphyseal dysplasia; multiple epiphyseal dysplasia MATN3-related