EEC Syndrome

Common Name(s)

EEC Syndrome, Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/Cleft Palate

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. In more than 90% of cases, it is caused by mutations in the TP63 gene. EEC syndrome is inherited in an autosomal dominant manner. Management typically requires evaluation by various specialists; treatment may vary depending on the signs and symptoms present in the affected individual.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "EEC Syndrome" for support, advocacy or research.

National Foundation for Ectodermal Dysplasias

The National Foundation for Ectodermal Dysplasias’ mission is to empower and connect people touched by ectodermal dysplasias through education, support, and research.

Last Updated: 7 May 2014

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "EEC Syndrome" for support, advocacy or research.

National Foundation for Ectodermal Dysplasias

The National Foundation for Ectodermal Dysplasias’ mission is to empower and connect people touched by ectodermal dysplasias through education, support, and research.

http://www.nfed.org

Last Updated: 7 May 2014

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "EEC Syndrome" returned 21 free, full-text research articles on human participants. First 3 results:

Correction of Mutant p63 in EEC Syndrome Using siRNA Mediated Allele-Specific Silencing Restores Defective Stem Cell Function.
 

Author(s): Vanessa Barbaro, Annamaria A Nasti, Claudia Del Vecchio, Stefano Ferrari, Angelo Migliorati, Paolo Raffa, Vincenzo Lariccia, Patrizia Nespeca, Mariangela Biasolo, Colin E Willoughby, Diego Ponzin, Giorgio Palù, Cristina Parolin, Enzo Di Iorio

Journal: Stem Cells. 2016 Jun;34(6):1588-600.

 

Ectrodactyly-Ectodermal dysplasia-Clefting (EEC) syndrome is a rare autosomal dominant disease caused by heterozygous mutations in the p63 gene and characterized by limb defects, orofacial clefting, ectodermal dysplasia, and ocular defects. Patients develop progressive total bilateral ...

Last Updated: 31 Dec 1969

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An allelic series of Trp63 mutations defines TAp63 as a modifier of EEC syndrome.
 

Author(s): Emma Vernersson Lindahl, Elvin L Garcia, Alea A Mills

Journal: Am. J. Med. Genet. A. 2013 Aug;161A(8):1961-71.

 

Human Ectrodactyly, Ectodermal dysplasia, Clefting (EEC) syndrome is an autosomal dominant developmental disorder defined by limb deformities, skin defects, and craniofacial clefting. Although associated with heterozygous missense mutations in TP63, the genetic basis underlying the ...

Last Updated: 31 Dec 1969

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APR-246/PRIMA-1(MET) rescues epidermal differentiation in skin keratinocytes derived from EEC syndrome patients with p63 mutations.
 

Author(s): Jinfeng Shen, Ellen H van den Bogaard, Evelyn N Kouwenhoven, Vladimir J N Bykov, Tuula Rinne, Qiang Zhang, Geuranne S Tjabringa, Christian Gilissen, Simon J van Heeringen, Joost Schalkwijk, Hans van Bokhoven, Klas G Wiman, Huiqing Zhou

Journal: Proc. Natl. Acad. Sci. U.S.A.. 2013 Feb;110(6):2157-62.

 

p53 and p63 share extensive sequence and structure homology. p53 is frequently mutated in cancer, whereas mutations in p63 cause developmental disorders manifested in ectodermal dysplasia, limb defects, and orofacial clefting. We have established primary adult skin keratinocytes from ...

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "EEC Syndrome" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.