Multiple epiphyseal dysplasia, Beighton type
Multiple epiphyseal dysplasia, Beighton type
Definition
Multiple epiphyseal dysplasia, Beighton type is a skeletal dysplasia characterized by epiphyseal dysplasia (usually mild) associated with progressive myopia, retinal thinning, crenated cataracts, conductive deafness, and stubby digits.
Also known as epiphyseal dysplasia, multiple, with myopia and deafness — per MONDO