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Genetic and Rare Diseases Information Center (GARD)

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EEC syndrome

Other Names for this Disease
  • Ectrodactyly-cleft lip/palate syndrome
  • Ectrodactyly-ectodermal dysplasia-cleft lip/cleft palate
  • Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome
  • Rudiger syndrome 1
  • Walker-Clodius syndrome
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Your Question

I met someone whose mother and brother have this disorder but she does not. Would it be necessary for her to have genetic testing to see if she is a carrier? Is it possible that she could have children without this disorder?

Our Answer

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

How is EEC syndrome inherited?

EEC syndrome is inherited in an autosomal dominant manner. Individuals inherit two copies of each gene (one from each parent). In autosomal dominant inheritance, only one copy of the mutated gene in each cell is sufficient to cause the condition. Sometimes the mutated copy of the gene is passed down from a parent, while other times the mutation in the gene occurs for the first time in the affected individual. When an individual with an autosomal dominant condition has children, each child has a 50% chance of inheriting the mutated gene, and a 50% chance of not inheriting the mutated gene. Although it may appear that a new mutation is present in an affected child with unaffected parents, the possibility of germline mosaicism exists; unaffected parents of a child with EEC syndrome have a 4% risk of having another affected child.[1]

EEC syndrome has reduced penetrance and variable expressivity.[1] Reduced penetrance means that not all individuals with a mutation in the disease-causing gene will have signs and symptoms of the condition; however, in this condition, it has been reported that up to 93-98% of individuals with a mutation will have the condition.[1] Variable expressivity means that there is a range of signs and symptoms that can occur in different people with the condition (i.e. the expression of the condition varies).
Last updated: 4/13/2012

Is genetic testing available for EEC syndrome?

Genetic testing is available for EEC syndrome. GeneTests lists the names of laboratories that are performing genetic testing for EEC syndrome. To view the contact information for the clinical laboratories conducting testing click here. To access the contact information for the research laboratories performing genetic testing click here. Testing for individuals with a family history of EEC syndrome who may have a mutation but do not exhibit signs and symptoms of the condition may be available if the mutation in the affected family member(s) is known. Prenatal diagnosis for pregnancies at risk may also be available if the mutation in the family is known.

Please note that most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional.
Last updated: 4/16/2012

Is it possible for an unaffected individual with a family history of EEC syndrome to have a child with the condition?

EEC syndrome has reduced penetrance, which means that not all individuals who have a mutation in the disease-causing gene will have the condition. The penetrance of EEC syndrome is estimated to be between 93% and 98%; this means that 93-98% of individuals with the mutation will be affected, while 2-7% will be unaffected.[1] However, an unaffected individual with a mutation still has a 50% chance of passing on the mutation to each of his/her children. Even though the unaffected individual with the mutation does not exhibit any signs or symptoms, his/her children can be affected. It should be noted that because the penetrance of the condition is up to 98%, an unaffected individual with an affected parent is much more likely to have two normal copies of the gene (thereby being unable to pass the condition on to offspring) than to carry the mutation and be unaffected.

Individuals interested in learning about their specific risk to have a mutation in the disease-causing gene, or their risk to have an affected child, should consult with a genetics professional.
Last updated: 4/16/2012

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: 10/18/2013