multiple epiphyseal dysplasia with myopia & conductive deafness

Genetics

• autosomal dominant
• associated with defects in COL2A1

Clinical manifestations

• epiphyseal dysplasia
• progressive myopia
• retinal thinning
• crenated cataracts
• conductive deafness

More general terms

• multiple epiphyseal dysplasia (EDM)

Database

• OMIM: https://mirror.omim.org/entry/132450