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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
Newly diagnosed with
Multiple epiphyseal dysplasia, Beighton type?
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The Chandler Project
The Chandler Project (TCP) provides those affected with achondroplasia, and other forms of skeletal dysplasia (dwarfism), with the latest in pharmaceutical research and surgical advancements.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
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