multiple epiphyseal dysplasia, Beighton type

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Disease Overview

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.


Synonyms

  • EDMMD
  • epiphyseal dysplasia, multiple, with myopia and conductive deafness
  • epiphyseal dysplasia, multiple, with myopia and deafness
  • multiple epiphyseal dysplasia-myopia-deafness syndromeEDMMD
  • epiphyseal dysplasia, multiple, with myopia and conductive deafness
  • epiphyseal dysplasia, multiple, with myopia and deafness
  • multiple epiphyseal dysplasia-myopia-deafness syndrome