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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Multiple epiphyseal dysplasia


Other Names for this Disease

  • EDM
  • Epiphyseal dysplasia, multiple
  • MED
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Inheritance

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How is multiple epiphyseal dysplasia inherited?

Multiple epiphyseal dysplasia (MED) can have different inheritance patterns depending on the genetic cause of the condition. Most cases are inherited in an autosomal dominant manner.[1] In autosomal dominant inheritance, having only one mutation in the disease-causing gene in each cell is sufficient to cause signs and symptoms of the condition. The mutated gene may be inherited from a parent or it can occur for the first time in the affected individual (called a de novo mutation). An individual with an autosomal dominant form of MED has a 50% (1 in 2) chance to pass the mutation on to each of his/her children.

More rarely, MED may be inherited in an autosomal recessive manner. In autosomal recessive inheritance, an individual must have a mutation in both copies of the disease-causing gene in each cell. Most individuals affected with an autosomal recessive condition inherit one mutation from each parent; the parents, who typically have one mutated copy of the gene, are referred to as carriers. Carriers of autosomal recessive conditions typically do not have signs or symptoms of the condition 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.

Autosomal dominant MED may be caused by mutations in the COMP, COL9A1, COL9A2, COL9A3, or MATN3 genes (or can be of unknown cause), and recessive MED is caused by mutations in the SLC26A2 gene.[1]
Last updated: 6/29/2012

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
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.