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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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Inheritance


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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

References
  1. 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.