Height and Weight Deficits Characterize Children with Ectodermal Dysplasia Syndromes

Investigators on this project include Kathleen J. Motil, MD, PhD; Baylor College of Medicine; Timothy J. Fete, MD, MPH, Saint Louis University; J. Kennard Fraley, MPH; Baylor College of Medicine; Rebecca J. Schultz, RN, CPNP; Baylor College of Medicine; Thomas M. Foy, MD, Saint Louis University; Ulrike Ochs, MD, Virginia Mason Medical Center; and Virginia Sybert, MD, University of Washington and Group Health Permanente

Dr. Motil’s group of researchers are the first to document weight deficits in early childhood that persist through adolescence in children affected by ectodermal dysplasia syndromes and suggest that differences in linear growth may exist among these rare genetic disorders. Their paper, titled, Growth and Nutritional Status of Children with Ectodermal Dysplasias was recently published in Pediatrics.

The investigators based their research on clinical observations that suggested that growth abnormalities may be present in children affected by ectodermal dysplasia. Their study characterized the longitudinal pattern of growth in a cohort of children affected by ectodermal dysplasia syndromes. They hypothesized that: 1) linear and ponderal growth abnormalities are present in ectodermal dysplasia children from infancy through adolescence, and 2) linear and ponderal growth abnormalities differ depending on the type of ectodermal dysplasia.

138 children affected by ectodermal dysplasia participated in their study conducted at three NFED National Family Conferences. 74% of them were affected by hypohidrotic ectodermal dysplasia (HED). They measured the heights and weights of children and supplemented these values with measurements obtained from their available medical records.

Growth abnormalities, measured in terms of weight deficits, were present at an early age in children with the ectodermal dysplasia syndromes and persisted through adolescence. Height deficits were only seen in children with ED syndromes other than HED.

The cause of the growth abnormalities is unknown, but may be related to a number of factors. Genetic factors may be implicated when height deficits are the predominant growth abnormality. Endocrine problems are unlikely to contribute to growth abnormalities, although there is a paucity of information about the hormonal status of children affected with the ectodermal dysplasia syndromes. Nutritional factors are more common in the setting of weight deficits. Young children with ectodermal dysplasia syndromes who have missing or deformed teeth may be at increased risk for nutritional inadequacies. In a previous report from the NFED, feeding problems and poor weight gain were identified in 40% of boys affected with HED. Gastrointestinal disorders such as constipation and gastroesophageal reflux, both of which may be found in children affected with ectodermal dysplasia, may reduce dietary intakes because of abdominal pain and vomiting.

These observations emphasize to families and their physicians the importance of monitoring carefully the growth patterns of children affected with the ectodermal dysplasia syndrome and considering the potential interventions that may reverse the growth abnormalities.

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