Multiple epiphyseal dysplasia, Beighton type

MONDO:0007562

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, EDMMD, epiphyseal dysplasia, multiple, with myopia and conductive deafness

1 clinical trial for this condition and its sub-types, 0 tagged with Multiple epiphyseal dysplasia, Beighton type itself.

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↑ Type 2 collagenopathy (39) ↑ Multiple epiphyseal dysplasia (0)

Including sub-types (1) Tagged with Multiple epiphyseal dysplasia, Beighton type (0)

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