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Multiple epiphyseal dysplasia, Beighton type

Disease definition

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.

ORPHA:166011

Classification level: Disorder
  • Synonym(s):
    • Multiple epiphyseal dysplasia-myopia-deafness syndrome
    • Multiple epiphyseal dysplasia-myopia-hearing loss syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q77.3
  • OMIM: 132450
  • UMLS: C1851536
  • MeSH: -
  • GARD: -
  • MedDRA: -
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