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Diseases

Genetic and Rare Diseases Information Center (GARD)

EEC syndrome


Other Names for this Disease
  • Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome
  • Rudiger syndrome 1
  • Walker-Clodius syndrome
  • Ectrodactyly-ectodermal dysplasia-cleft lip/cleft palate
  • Ectrodactyly-cleft lip/palate syndrome
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 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.This means that having a change (mutation) in only one copy of the responsible gene in each cell is enough to cause features of the condition.

In some cases, an affected person inherits the mutated gene from an affected parent. In other cases, the mutation occurs for the first time in a person with no family history of the condition. This is called a de novo mutation.

When a person with a mutation that causes an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit that mutation.

EEC can appear to be caused by a de novo mutation in some instances when an unaffected parent of an affected child has germline mosaicism. Germline mosaicism affects the genetic make-up of the egg and sperm cell only. It is estimated that unaffected parents of a child with EEC syndrome have a 4% risk of having another affected child.[1]

EEC syndrome additionally shows 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][2] 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: 4/11/2016

Is genetic testing available for EEC syndrome?

It is estimated that greater than 90% of cases of EEC syndrome are caused by mutations in the TP63 gene. The remainder are suspected to be caused by different mutations in a region on chromosome 7. Genetic testing is available to detect both mutations in the TP63 gene and in the implicated region on chromosome 7. 

Genetic Testing Registry 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.

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: 4/11/2016

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: 4/11/2016

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

References
Other Names for this Disease
  • Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome
  • Rudiger syndrome 1
  • Walker-Clodius syndrome
  • Ectrodactyly-ectodermal dysplasia-cleft lip/cleft palate
  • Ectrodactyly-cleft lip/palate syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.