Orphanet: Multiple epiphyseal dysplasia, Lowry type

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Multiple epiphyseal dysplasia, Lowry type

Disease definition

Multiple epiphyseal dysplasia, with miniepiphyses is a rare primary bone dysplasia disorder characterized by strikingly small secondary ossification centers (mini-epiphyses) in all or only some joints, resulting in severe bone dysplasia of the proximal femoral heads. Short stature, increased lumbar lordosis, genua vara and generalized joint laxity have also been reported.


  • Synonym(s):
    • Multiple epiphyseal dysplasia with Robin phenotype
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Neonatal
  • ICD-10: Q78.8
  • OMIM: 601560
  • UMLS: C1832112
  • MeSH: -
  • GARD: -
  • MedDRA: -

Additional information

Further information on this disease

Specialised Social Services

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