Multiple epiphyseal dysplasia, Beighton type

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Multiple epiphyseal dysplasia, Beighton type

Synonyms: Multiple epiphyseal dysplasia-myopia-deafness syndrome | Multiple epiphyseal dysplasia-myopia-hearing loss syndrome

A rare primary bone dysplasia characterized by the association of multiple epiphyseal dysplasia visual impairment (with early-onset progressive myopia retinal thinning and cataracts) and conductive hearing loss. Patients are of short stature and present brachydactyly genu valgus deformity and joint pain.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version April 2024

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