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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
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

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.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
    EEC syndrome 1
    The Online Mendelian Inheritance in Man (OMIM)
    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.
    Orphanet
    Orphanet
  • 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.
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
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.