Conditions / Syndrome
multiple epiphyseal dysplasia with myopia and deafness
info · Syndrome
A syndrome characterized by typically mild epiphyseal dysplasia, progessive myopia, retinal thinning, crenated cataracts, conductive deafness and brachydactyly that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.11.
Signs and symptoms
- Coxa valga
- Short stature
- Narrow mouth
- Asteroid hyalosis
- Flat face
- Retinal thinning on OCT
- Cataract
- Conductive hearing impairment
- Genu valgum
- Epiphyseal dysplasia
Also known as: EDMMD; multiple epiphyseal dysplasia, Beighton type; multiple epiphyseal dysplasia-myopia-deafness syndrome