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Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Condition

Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome

AEC syndrome is a form of ectodermal dysplasia characterized by skin erosions, eyelid fusion, and cleft lip or palate.

Overview

Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is a form of ectodermal dysplasia, a group of conditions involving abnormal development of tissues such as skin, hair, nails, teeth, and sweat glands.

Symptoms

AEC syndrome presents with a variety of physical and developmental features:

  • Skin and Hair: Missing patches of skin (erosion), particularly on the scalp, which can lead to scarring, hair loss, and infection. Hair may be brittle, sparse, or missing.
  • Eyelids and Mouth: Infants are often born with ankyloblepharon (fused eyelids) and a cleft lip or cleft palate, which can cause feeding difficulties and failure to thrive.
  • Temperature Regulation: Missing or nonfunctioning sweat glands can lead to overheating or hypothermia.
  • Limb and Skeletal: Limb abnormalities, including fused fingers and toes (syndactyly), permanently bent digits, or missing fingers and toes.
  • Other Features: Hearing loss, distinctive facial features (small jaws, narrow philtrum), hypospadias in males, digestive problems, and chronic sinus or ear infections.

Causes

AEC syndrome is caused by variants in the TP63 gene. This gene produces the p63 protein, a transcription factor that binds to DNA to control the activity of other genes. The p63 protein is critical for the development of ectodermal structures, limbs, and other organs. Variants in TP63 interfere with the protein's ability to regulate target genes at the correct times, leading to abnormal development.

Inheritance

This condition is inherited in an autosomal dominant pattern, meaning one copy of the altered gene in each cell is sufficient to cause the disorder.

Frequently Asked Questions

Use a specialized high‑potency, thickened formula or breast‑milk expressed with a nipple shield designed for cleft feeding. Feed in a semi‑upright position, pause frequently to allow swallowing, and avoid over‑suction that can cause aspiration. A pediatric feeding specialist can tailor a plan to each infant’s needs.
Keep the child in a cool, well‑ventilated environment, dress in lightweight, breathable fabrics, and use fans or cool‑mist humidifiers. Monitor core temperature with a digital thermometer, especially during hot weather or physical activity, and avoid overheating by limiting strenuous play.
pply a barrier ointment (e.g., petroleum jelly or zinc oxide) to exposed areas, keep wounds clean and covered, and use gentle, fragrance‑free cleansers. Promptly treat any signs of infection—redness, swelling, or drainage—with appropriate antibiotics as directed by a dermatologist or pediatrician.===
Surgical separation of fused eyelids is usually performed in the first few months of life. The procedure is minimally invasive, often done under general anesthesia, and healing typically takes 1–2 weeks with careful eye protection and ointment use. Follow‑up visits are needed to monitor for re‑adhesion.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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