The 20 Best AEC Syndrome Doctors Near Me in pottsville, PA

Find the Top AEC Syndrome Experts and Specialists

Last Updated: 09/26/2026

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MediFind found 1 doctor with experience in AEC Syndrome near pottsville, PA. Of these, 1 are Experienced.

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1 provider found
    Experienced in AEC Syndrome

    Dr. Maria E. Barbe
    Ophthalmology
    Experienced in AEC Syndrome

    Dr. Maria E. Barbe
    Ophthalmology
    Referral may be required

    Sight MD PA

    201 East Laurel Blvd, 
    Pottsville, PA 
     (4.2 miles away)
    571-000-0000
    Languages Spoken:
    English
    See accepted insurances
    Accepting New Patients

    Maria Barbe is an Ophthalmologist practicing medicine in Pottsville, 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. Dr. Barbe is currently accepting new patients.

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    Last Updated: 09/26/2026

    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.