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 19 free, full-text research articles on human participants. First 3 results:

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: 6 Feb 2013

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Ectrodactyly, ectodermal dysplasia, and cleft lip-palate (EEC) syndrome without clefting: a rare case report.
 

Author(s): Dipali D Malvankar, S Sacchidanand, M Mallikarjun

Journal:

 

Ectrodactyly, Ectodermal dysplasia, and Cleft lip-cleft palate (EEC) syndrome is a rare ectodermal dysplasia presenting with various combinations of its three components. It is an autosomal dominant disorder with variable expression and penetrance. Patients have features of ectodermal ...

Last Updated: 8 Mar 2012

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The EEC syndrome and SHFM: report of two cases and mutation analysis of p63 gene.
 

Author(s): Hacer Ergin, C Nur Semerci, Y Tuğrul Karakuş, Hans Scheffer, Seniz Ergin, Uğur Koltuksuz, Rowdy Meijer, N Lale Satiroğlu-Tufan

Journal: Turk. J. Pediatr.. ;52(5):529-33.

 

The p63 gene is a transcription factor and a member of the p53 family. Heterozygote mutation of the p63 gene is suggested in a number of human syndromes including limb development and/or ectodermal dysplasia. The EEC syndrome, consisting of ectrodactyly (E), ectodermal dysplasia (E) ...

Last Updated: 25 Mar 2011

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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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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.