|Motil, Kathleen -|
|Fete, Timothy -|
Submitted to: American Journal of Medical Genetics
Publication Type: Peer Reviewed Journal
Publication Acceptance Date: February 4, 2009
Publication Date: September 1, 2009
Citation: Motil, K.J., Fete, T.J. 2009. Growth, nutritional, and gastrointestinal aspects of ankyloblepharon-ectodermal defect-cleft lip and/or palate (AEC) syndrome. American Journal of Medical Genetics. 149A(9):1922-1925. Interpretive Summary: Ankyloblepharon-ectodermal defect-cleft lip and/or palate (AEC), is a rare genetic disorder due to mutations in a specific gene. Although the clinical features of AEC have been reported, the patterns of growth, body composition, and the nutritional aspects of this genetic disorder have not been characterized. We reviewed the recent progress in basic and clinical research of this rare genetic disorder, and found that the birth weight and height-for-age scores of the AEC children were lower than those of unaffected children, and weight-for-age scores of AEC children increased significantly with advancing age because of increasing body fat. This review is important because it provides a better understanding of the natural history of AEC and supports the advocacy role for families affected with this disorder.
Technical Abstract: 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.