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Diseases

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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Overview



What is EEC syndrome?

How is EEC syndrome inherited?

Is genetic testing available for EEC syndrome?


What is EEC syndrome?

EEC syndrome (Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/Palate) is a rare form of ectodermal dysplasia. The symptoms can vary from mild to severe and most commonly include missing or irregular fingers and/or toes (ectrodactyly); abnormalities of the hair and glands; cleft lip and/or palate; distinctive facial features; and abnormalities of the eyes and urinary tract.[1] In more than 90% of cases, it is caused by mutations in the TP63 gene. EEC syndrome is inherited in an autosomal dominant manner.[2] Management typically requires evaluation by various specialists; treatment may vary depending on the signs and symptoms present in the affected individual.[2]
Last updated: 4/13/2012

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.[2]

EEC syndrome has reduced penetrance and variable expressivity.[2] 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.[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: 4/13/2012

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

References
  1. Ectrodactyly Ectodermal Dysplasia Cleft Lip/Palate. NORD. March 8, 2008; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/935/viewAbstract. Accessed 4/13/2012.
  2. Didier Lacombe. EEC syndrome. Orphanet. March 2011; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1896. Accessed 4/13/2012.