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Learn About AEC Syndrome

What is the definition of AEC Syndrome?
Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC syndrome) is a form of ectodermal dysplasia, a group of conditions characterized by abnormal development of ectodermal tissues including the skin, hair, nails, teeth, and sweat glands. The most common feature is missing patches of skin (erosions) on the scalp, neck, hands, and feet. The skin erosions can lead to infection, scarring, and hair loss. Other features include changes in skin coloring; misshapen or absent fingernails and toenails; malformed or missing teeth; increased sensitivity to heat; hearing loss; cleft lip and/or palate; and other facial abnormalities. This condition is caused by genetic changes in the TP63 gene and is inherited in an autosomal dominant fashion. Rapp-Hodgkin syndrome was classified as a separate disorder until it was discovered that it result from genetic changes in the same part of the TP63 gene. Rapp-Hodgkin syndrome and AEC syndrome are considered to be part of the same disease spectrum.
Who are the top AEC Syndrome Local Doctors?
Advanced in AEC Syndrome
Advanced in AEC Syndrome

Osu Eye Physicians And Surgeons, LLC

915 Olentangy River Rd, Fl 5, 
Columbus, OH 
Languages Spoken:
English
Accepting New Patients

Andrew Hendershot is an Ophthalmologist in Columbus, Ohio. Dr. Hendershot and is rated as an Advanced provider by MediFind in the treatment of AEC Syndrome. His top areas of expertise are Keratoconus, Coloboma, Coloboma of Iris, Cataract, and Corneal Transplant. Dr. Hendershot is currently accepting new patients.

Distinguished in AEC Syndrome
Distinguished in AEC Syndrome
Naples, IT 

Caterina Missero practices in Naples, Italy. Missero and is rated as a Distinguished expert by MediFind in the treatment of AEC Syndrome. Her top areas of expertise are AEC Syndrome, Aplasia Cutis Congenita, Clouston Syndrome, and Ectodermal Dysplasias.

 
 
 
 
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Distinguished in AEC Syndrome
Distinguished in AEC Syndrome
Naples, IT 

Dario Antonini practices in Naples, Italy. Antonini and is rated as a Distinguished expert by MediFind in the treatment of AEC Syndrome. His top areas of expertise are AEC Syndrome, Squamous Cell Skin Carcinoma, Clouston Syndrome, and Ectodermal Dysplasias.

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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center