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Genetic and Rare Diseases Information Center (GARD)

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Multiple epiphyseal dysplasia


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.

Your Question

I have a friend who has been diagnosed with multiple epiphyseal dysplasia. There is no other incidence of the condition within his family however his mother was born with a cleft palate. He believes he has passed on his mutation to both of his children. Based on this information do you think that his mutation is a result of random mutation or could there be a link between his mothers cleft palate and his condition? Is this condition dominant? And if so, what is the likelihood he could pass it on to his next child?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

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

What is the risk for an individual with multiple epiphyseal dysplasia to pass the condition on to his/her offspring?

The risk for an individual with MED to pass the condition on to his/her offspring depends on the type of MED the individual has. Each child of an individual with an autosomal dominant form of MED has a 50% (1 in 2) risk to inherit the condition. In order for an individual with an autosomal recessive form of MED to have a child with the condition, that individual's partner must be a carrier for the same form of MED (e.g. he/she must have a mutation in the same disease-causing gene). Genetic testing may help to confirm the type of MED an individual has, as well as whether a partner is a carrier.

Individuals who are interested in learning more about the genetics of MED, genetic testing for MED and/or the genetic risks to themselves or family members should speak with a genetics professional.
Last updated: 7/1/2012

How can I find a genetics professional in my area?

Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.

The following online resources can help you find a genetics professional in your community:
Last updated: 6/5/2014

Is there any known association between multiple epiphyseal dysplasia and cleft palate?

A search of the available medical literature does not yield information about an association between autosomal dominant MED and cleft palate. Cleft palate is a congenital abnormality (present at birth). The autosomal dominant form of multiple epiphyseal dysplasia (MED) typically manifests late in childhood. At birth, the affected individual's external appearance is normal, and clinical features of MED are seen in late childhood.[2]

About 50 percent of individuals with autosomal recessive multiple epiphyseal dysplasia are born with at least one abnormal feature, which may include cleft palate; clubfoot; an unusual curving of the fingers or toes (clinodactyly); ear swelling; and/or an abnormality of the kneecap called a double-layered patella.[1]

Although cleft palate may occur as part of some syndromes, there are many causes of this birth defect. In addition to genetic abnormalities, cleft palate may be caused by other things such as fetal exposure to drugs, viruses or other toxins.[3] About 6,800 babies in the United States are born with oral clefts each year. Nearly 2,600 babies are born with isolated cleft palate (occurring with no other abnormalities) each year.[4]
Last updated: 7/1/2012

References
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.