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 http://www.orphadata.org. Data version April 2026
Newly diagnosed with
Multiple epiphyseal dysplasia, Beighton type?
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Advocacy Organizations
The Chandler Project
The Chandler Project brings awareness and shines a light on transformative research surrounding achondroplasia and other skeletal dysplasias by offering support to a global community and network of patients, parents, and caregivers seeking information on scientific discoveries, pharmaceutical advancements and surgical treatment options.
Wave of Support, Inc
Empowering those affected by bleeding disorders and other rare disease through advocacy, resources, education, and support
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Clinical Trials
For a list of clinical trials in this disease area, please click here.