AEC Syndrome
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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?
Maria E. Barbe
Experienced in AEC Syndrome
Ophthalmology
Experienced in AEC Syndrome
Ophthalmology

Sight MD PA

1300 Broadcasting Road, 
Wyomissing, PA 
Languages Spoken:
English

. Dr. Barbe is rated as an Experienced provider by MediFind in the treatment of AEC Syndrome. Her top areas of expertise are Strabismus, Esotropia, Amblyopia, and Epicanthal Folds.

Abimbola T. Ajayi
Experienced in AEC Syndrome
Experienced in AEC Syndrome

Penn State Health Medical Group - All About Children

655 Walnut St, 
West Reading, PA 
Languages Spoken:
English

. Dr. Ajayi is rated as an Experienced provider by MediFind in the treatment of AEC Syndrome. Her top areas of expertise are Obesity in Children, Autism Spectrum Disorder, EEC Syndrome, and Ectodermal Dysplasias.

 
 
 
 
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Adam H. Kaufman
Advanced in AEC Syndrome
Ophthalmology
Advanced in AEC Syndrome
Ophthalmology

Cincinnati Eye Institute

1945 Cei Drive, 
Blue Ash, OH 
Experience:
39+ years
Languages Spoken:
English
Accepting New Patients

Adam Kaufman is an Ophthalmologist in Blue Ash, Ohio. Dr. Kaufman has been practicing medicine for over 39 years and is rated as an Advanced provider by MediFind in the treatment of AEC Syndrome. His top areas of expertise are Uveitis, Neuroretinitis, Interstitial Keratitis, Scleritis, and Corneal Transplant. Dr. Kaufman is currently accepting new patients.

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