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What is Multiple Epiphyseal Dysplasia? 

  • A form of dwarfism
  • Affects cartilage and bone development primarily the long bones (epiphyses)
  • Average height of an adult is between 145cm and 170cm
  • Two types of MED distinguished by pattern of inheritance: Dominant MED and Recessive MED
  • Incidence differs between the two types of MED - 
    • Dominant MED: 1 in 10,000
    • Recessive MED: incidence unknown
  • Mutation differs between the two types of MED
    • Dominant MED: COMP, COL9A1, COL9A2, COL9A3 and MATN3 
    • Recessive MED: DTDST (SLC26A2)

Diagnosis of Multiple Epiphyseal Dysplasia 

  • Before birth by: 
    • Testing methods e.g. DNA linkage studies, if expected due to parentage. 
  • After birth by:
    • Observation of common physical characteristics
    • X-rays

What are common characteristics of Multiple Epiphyseal Dysplasia?

  • Mild short stature
  • Limbs are mildly shorter in relation to trunk
  • Joint pain and early on set arthritis 
  • Waddling gait
  • Flat feet
  • Curvature of the spine (Scoliosis)
  • club foot (recessive form of MED)
  • cleft palate (recessive form of MED)
  • inward curving fingers (recessive form of MED)

*Please be aware, not all of the characteristics may be present*

Other information about Multiple Epiphyseal Dysplasia

  • Life expectancy is not affected
  • Intelligence is not affected
  • Can affect boys and girls equally

Genetics of Multiple Epiphyseal Dysplasia

  • Autosomal dominant pattern
    • If there is no history of MED in the family, MED can be passed on by one parent (dominant) as the result of a mutation

Dwarfism Genetics MED mutation dominant

  • Autosomal recessive pattern
    • Passed on by both parents (recessive) as a result of a mutation

 Dwarfism Genetics MED mutation recessive

Additional reading about Multiple Epiphyseal Dysplasia

Forums for supporting people with Multiple Epiphyseal Dysplasia

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