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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


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

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.
Your Questions Answered
by the Genetic and Rare Diseases Information Center

1 question(s) from the public on EEC syndrome have been answered. See questions and answers. You can also submit a new question.

Basic Information

  • DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • !LINK! provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss the different types of EEC syndrome. Click on the links below to go to OMIM and review these resources.
    EEC syndrome 1
    EEC syndrome 3
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss EEC syndrome. Click on the link to view a sample search on this topic.