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Growth, nutritional, and gastrointestinal aspects of ankyloblepharon-ectodermal defect-cleft lip and/or palate (AEC)

Kathleen J Motil1, Timothy J Fete

  • 1Department of Pediatrics, USDA/ARS Children's Nutrition Research Center, Baylor College of Medicine, 1100 Bates Street, Houston, TX 77030, USA. kmotil@bcm.edu

American Journal of Medical Genetics. Part A
|August 14, 2009
PubMed

Insights

Ankyloblepharon-ectodermal defect-cleft lip and/or palate (AEC) patients show impaired growth and altered body composition. Many AEC individuals experience significant nutritional and gastrointestinal issues, impacting their health.

Area of Science:

  • Genetics
  • Pediatrics
  • Human Biology

Background:

  • Ankyloblepharon-ectodermal defect-cleft lip and/or palate (AEC) syndrome is a rare genetic disorder.
  • TP63 gene mutations are the known cause of AEC syndrome.

Purpose of the Study:

  • To characterize growth patterns, body composition, and nutritional/gastrointestinal aspects in individuals with AEC syndrome.
  • To provide novel clinical insights into the multifaceted health challenges of AEC patients.

Main Methods:

  • Clinical anthropometry was used to assess growth and body composition.
  • A survey questionnaire gathered data on nutritional and gastrointestinal issues.
  • The study included a cohort of 18 children and adults with AEC syndrome.

Main Results:

  • AEC patients exhibited significantly lower mean birth weight and height-for-age z-scores compared to the reference population.
  • Weight-for-age z-scores increased with age due to rising body fat, indicating altered body composition.
  • High prevalence of cleft lip (47%) and palate (94%) was observed; 28% used dentures.
  • Over 25% reported nutritional/gastrointestinal problems, including feeding difficulties, GERD, and constipation.

Conclusions:

  • AEC syndrome is associated with distinct growth and body composition patterns.
  • Nutritional and gastrointestinal challenges are common in AEC patients, requiring clinical attention.
  • This study offers valuable data for managing the comprehensive health needs of individuals with AEC syndrome.

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