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Multiple epiphyseal dysplasia

Orpha number ORPHA251
Synonym(s) Polyepiphyseal dysplasia
Prevalence 1-9 / 100 000
Inheritance
  • Autosomal dominant
  • Autosomal recessive
Age of onset Neonatal/infancy
ICD-10
  • Q77.3
OMIM -
UMLS
  • C0026760
MeSH -
MedDRA
  • 10028197
SNOMED CT
  • 59708000

Summary

Multiple epiphyseal dysplasias (MED/EDMs) are characterized by epiphyseal anomalies causing joint pain early in life, recurrent osteochondritis and early arthrosis. The EDMs are a heterogeneous group of diseases with variable expression classed as MED/EDMs 1-6. The average prevalence is estimated at around 1/20,000. EDM1 (see this term) is clinically the best characterized form of EMD and is marked by a waddling gait and pain at onset, and moderate short stature. The main complication is early arthrosis of the hip. EDM1 is transmitted in an autosomal dominant manner and is caused by mutations in the gene (COMP; 19p13.1) encoding the cartilage oligomeric matrix protein. Other dominantly inherited forms of EDM are not as well characterized clinically but causative mutations in genes encoding several cartilage extracellular matrix components have been identified in some cases: COL9A2 (1p33-p32.2) for EDM2, COL9A3 (20q13.3) for EDM3 and COL9A1 (6q13) for EDM6 (EDMs due to collogen 9 anomalies; see this term), and MATN3 (2p24-p23) for EDM5 (see this term). An atypical form of EDM (EDM4; see this term), characterized by club foot and double layered patella, has been reported and is transmitted in an autosomal recessive manner and caused by mutations in the SLC26A2gene (5q32-q33.1). Some forms of dysplasia are mainly limited to the femoral epiphyses (Meyer dysplasia; see this term). In addition, several syndromes characterized by the association of EDM with other clinical manifestations such as myopia, deafness and facial dysmorphism have also been described. Diagnosis relies on identification of the radiological features. Current treatments involve mainly physiotherapy and orthopedic care. Hip replacement is frequently required, but the age at intervention is variable.

Expert reviewer(s)

  • Dr Martine LE MERRER

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