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

Sight MD PA

1300 Broadcasting Road, 
Wyomissing, PA 
610-396-9999
Languages Spoken:
English
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. Dr. Barbe is rated as an Experienced provider by MediFind in the treatment of AEC Syndrome. She is also highly rated in 11 other conditions, according to our data. Her clinical expertise encompasses Strabismus, Esotropia, Amblyopia, and Epicanthal Folds. Dr. Barbe is board certified in American Board Of Ophthalmology.

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

Penn State Health Medical Group - All About Children

655 Walnut St, 
West Reading, PA 
610-372-9222
Languages Spoken:
English
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. Dr. Ajayi is rated as an Experienced provider by MediFind in the treatment of AEC Syndrome. She is also highly rated in 1 other condition, according to our data. Her clinical expertise encompasses Obesity in Children, Autism Spectrum Disorder, Ectodermal Dysplasias, and Zlotogora-Ogur Syndrome. Dr. Ajayi is board certified in American Board Of Pediatrics.

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

Cincinnati Eye Institute

1945 Cei Drive, 
Blue Ash, OH 
513-984-5133
Experience:
39+ years
Languages Spoken:
English
See accepted insurances
Accepting New Patients

Adam Kaufman is an Ophthalmologist practicing medicine in Blue Ash, Ohio. He has been practicing medicine for over 39 years. Dr. Kaufman is rated as an Advanced provider by MediFind in the treatment of AEC Syndrome. He is also highly rated in 27 other conditions, according to our data. His clinical expertise encompasses Uveitis, Neuroretinitis, Interstitial Keratitis, Cataract, and Corneal Transplant. Dr. Kaufman is board certified in American Board Of Ophthalmology - 1994 and American Board Of Ophthalmology - None. Dr. Kaufman is currently accepting new patients.

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