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Multiple epiphyseal dysplasia type 1

Disease definition

Multiple epiphyseal dysplasia type 1 (MED 1) is a form of multiple epiphyseal dysplasia that is characterized by normal or mild short stature, pain in the hips and/or knees, progressive deformity of extremities and early-onset osteoarthrosis. Specific features to MED 1 include a more pronounced involvement of hip joints and gait abnormality and a shorter adult height. MED1 is allelic to pseudoachondroplasia with which it shares clinical and radiological features. The disease follows an autosomal dominant mode of transmission.

ORPHA:93308

Classification level: Disorder
  • Synonym(s):
    • EDM1
    • MED1
    • Polyepiphyseal dysplasia type 1
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: Childhood
  • ICD-10: Q77.3
  • OMIM: 132400
  • UMLS: C1838280
  • MeSH: C535501
  • GARD: 2180
  • MedDRA: -

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