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NORD is very grateful to Timothy J. Fete MD, MPH, Children’s Miracle Network Distinguished Professor and Chair, Department of Child Health University of Missouri School of Medicine, for assistance in the preparation of this report.
Synonyms of AEC Syndrome
- Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
- Ankyloblepharon-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome
- Hay-Wells Syndrome
- Rapp-Hodgkin Syndrome, included
- No subdivisions found.
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.
Organizations related to AEC Syndrome
Please note that some of these organizations may provide information concerning certain conditions potentially associated with this disorder (e.g., cleft palate, etc.)
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