Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Multiple epiphyseal dysplasia


Other Names for this Disease
  • EDM
  • Epiphyseal dysplasia, multiple
  • MED
  • Polyepiphyseal dysplasia
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Inheritance

Newline Maker

How is multiple epiphyseal dysplasia inherited?

Multiple epiphyseal dysplasia (MED) may be inherited in an autosomal dominant or autosomal recessive manner depending on the genetic cause. Most cases are autosomal dominant.[1] In autosomal dominant inheritance, having a mutation in only one of the 2 copies of the responsible gene is enough to cause the condition. The mutation may be inherited from a parent or can occur for the first time in the affected person. Each child of a person with an autosomal dominant condition has a 50% (1 in 2) chance to inherit the mutation.

More rarely, MED is inherited in an autosomal recessive manner. In autosomal recessive inheritance, a person must have a mutation in both copies of the responsible gene to be affected. The parents of a person with an autosomal recessive condition usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not have signs or symptoms and are unaffected. When two carriers for the same condition have children, each child has a 25% (1 in 4) chance to be affected, a 50% (1 in 2) chance to be a carrier like each parent, and a 25% to be both unaffected and not a carrier.
Last updated: 6/3/2015

References
  1. Multiple epiphyseal dysplasia. Genetics Home Reference. February 2008; http://ghr.nlm.nih.gov/condition/multiple-epiphyseal-dysplasia. Accessed 6/29/2012.


Other Names for this Disease
  • EDM
  • Epiphyseal dysplasia, multiple
  • MED
  • Polyepiphyseal dysplasia
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.