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

Am J Med Genet A. 2009 Sep;149A(9):1922-5. doi: 10.1002/ajmg.a.32789.


Ankyloblepharon-ectodermal defect-cleft lip and/or palate (AEC) is a rare genetic disorder due to mutations in the TP63 gene. In the present study, we characterized the pattern of growth and body composition and the nutritional and gastrointestinal aspects of children and adults (n = 18) affected with this disorder using clinical anthropometry and a survey questionnaire. The mean birth weight and height-for-age z-scores of the AEC patients were significantly lower than those of the reference population. The weight-for-age z-score of the AEC cohort increased significantly with advancing age because of increasing body fat. Cleft lip and palate were present in 47% and 94%, respectively, of the AEC cohort; 28% had dentures. One-fourth or more of the AEC cohort reported having nutritional and/or gastrointestinal problems including the need for supplemental formula feedings, gastrostomy placement, gastroesophageal reflux, and constipation. Our observations provide novel clinical information about growth, body composition, and nutritional and gastrointestinal aspects of children and adults with AEC.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Abnormalities, Multiple / genetics
  • Abnormalities, Multiple / pathology
  • Adipose Tissue
  • Adolescent
  • Adult
  • Body Height
  • Body Weight
  • Child
  • Child, Preschool
  • Cleft Lip / diagnosis
  • Cleft Lip / genetics
  • Cleft Lip / pathology*
  • Cleft Palate / diagnosis
  • Cleft Palate / genetics
  • Cleft Palate / pathology*
  • Constipation / diagnosis
  • Ectodermal Dysplasia / diagnosis
  • Ectodermal Dysplasia / genetics
  • Ectodermal Dysplasia / pathology*
  • Eyelids / abnormalities
  • Female
  • Gastroesophageal Reflux / diagnosis*
  • Gastroesophageal Reflux / pathology
  • Gastrostomy / statistics & numerical data*
  • Growth Disorders / diagnosis*
  • Growth Disorders / pathology
  • Humans
  • Infant
  • Male
  • Surveys and Questionnaires
  • Syndrome
  • Young Adult