National Organization for Rare Disorders, Inc.
It is possible that the main title of the report AEC Syndrome is not the name you expected.
Ankyloblepharon-ectodermal dysplasia-cleft lip/palate (AEC) syndrome, which is also known as Hay-Wells syndrome, is a rare disorder characterized by a wide variety of symptoms that can affect the skin, hair, nails, teeth, certain glands, and the arms and legs. Common symptoms include abnormal fibrous strands of tissue that can partially or completely fuse the upper and lower eyelids (ankyloblepharon), mild to severe skin erosions, abnormal hair, and cleft palate and/or cleft lip. Additional symptoms including malformation of the nails, abnormalities in skin color, limb malformations, and dental changes can also be present. Specific symptoms may vary greatly from one individual to another. AEC syndrome is caused by mutations in the p63 gene and most cases are either new (spontaneous) mutations or are inherited as autosomal dominant disorders. Another disorder that is caused by mutations in the p63 gene, Rapp Hodgkin syndrome, is now considered to be part of the one disease spectrum that also includes AEC syndrome.
There are at least three other syndromes caused by mutations of the p63 gene including limb-mammary syndrome, ADULT syndrome, and EEC syndrome. In addition, p63 mutations have also been reported as the cause of nonsyndromic split hand/foot malformation and nonsyndromic cleft lip/palate. There is considerable overlap among these disorders and some researchers consider them different expressions of one disease process. Despite the overlap, the p63-associated syndromes have their own characteristic physical findings related, in part, to the specific mutation of the p63 gene present. These syndromes are further classified as forms of ectodermal dysplasia, a group of disorders characterized by abnormalities that occur during early embryonic development. Ectodermal dysplasias typically affect the hair, teeth, nails, and/or skin.
Craniofacial Foundation of America
- 975 East Third Street
- Chattanooga, TN 37403
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- Fax: (423)778-8172
- Tel: (800)418-3223
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- Website: http://www.craniofacialfoundation.org/www
Ectodermal Dysplasia Society
- Unit 1 Maida Vale Business Centre
- England, GL53 7ER
- United Kingdom
- Tel: 4401242261332
- Tel: 4407805775703
- Email: firstname.lastname@example.org
- Website: http://www.ectodermaldysplasia.org
Genetic and Rare Diseases (GARD) Information Center
- PO Box 8126
- Gaithersburg, MD 20898-8126
- Tel: (301)251-4925
- Fax: (301)251-4911
- Tel: (888)205-2311
- Website: http://rarediseases.info.nih.gov/GARD/
March of Dimes
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NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases
- Information Clearinghouse
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- Email: NIAMSinfo@mail.nih.gov
- Website: http://www.niams.nih.gov/
NIH/National Institute of Dental and Craniofacial Research
- Building 31, Room 2C39
- 31 Center Drive, MSC 2290
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- Website: http://www.nidcr.nih.gov/
National Foundation for Ectodermal Dysplasias
- 6 Executive Drive
- Suite 2
- Fairview Hights, IL 62208
- Tel: 618-566-2020
- Fax: 618-566-4718
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- Website: http://www.nfed.org
For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only.
It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report.
This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Last Updated: 10/25/2013
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