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?
Experienced in AEC Syndrome
Experienced in AEC Syndrome
Referral may be required

Penn State Health Medical Group - All About Children

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

Abimbola Ajayi is a Pediatrics provider practicing medicine in West Reading, Pennsylvania. 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, Zlotogora-Ogur Syndrome, and Clouston Syndrome. Dr. Ajayi is board certified in American Board Of Pediatrics.

Experienced in AEC Syndrome
Ophthalmology
Experienced in AEC Syndrome
Ophthalmology
Referral may be required

Sight MD PA

1300 Broadcasting Road, 
Wyomissing, PA 
Languages Spoken:
English

Maria Barbe is an Ophthalmologist practicing medicine in Wyomissing, Pennsylvania. 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.

 
 
 
 
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Advanced in AEC Syndrome
Pediatrics | Dermatology
Advanced in AEC Syndrome
Pediatrics | Dermatology
Referral required

C.S. Mott Children's Hospital

1540 E Hospital Dr., Floor 6 Reception C, 
Ann Arbor, MI 
Languages Spoken:
English

Dr. Jennifer Mancuso a board-certified dermatologist, and fellowship-trained pediatric dermatologist who provides medical dermatology diagnosis and treatment to patients of all ages. Dr. Mancuso sees patients in our medical dermatology outpatient clinics, including our pediatric dermatology clinic at C.S. Mott Children’s Hospital. In addition, Dr. Mancuso provides dermatology consultation within the Michigan Medicine hospitals and emergency department.Dr. Mancuso is a clinical assistant professor in the departments of dermatology and pediatrics. She received her medical degree from Wayne State University School of Medicine in Detroit, Michigan. Following graduation, Dr. Mancuso completed her transitional year internship and her dermatology residency at Henry Ford Hospital, where she served as Chief Resident in her final year. Dr. Mancuso joined the University of Michigan Department of Dermatology faculty in 2018 and subsequently completed a fellowship in pediatric dermatology at Rady Children’s Hospital in San Diego, California in 2020. Dr. Mancuso is rated as an Advanced provider by MediFind in the treatment of AEC Syndrome. She is also highly rated in 75 other conditions, according to our data. Her clinical expertise encompasses DRESS Syndrome, Hidradenitis Suppurativa, Keratosis Pilaris, and Stork Bite.

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