ARS | Publication request: Growth Characteristics of Children with Ectodermal Dysplasia Syndromes

Submitted to: Pediatrics
Publication Type: Peer Reviewed Journal
Publication Acceptance Date: February 8, 2005
Publication Date: August 1, 2005
Publisher's URL: http://pediatrics.aappublications.org
Citation: Motil, K.J., Fraley, K., Schultz, R.J., Ochs, U., Sybert, V. 2005. Growth characteristics of children with ectodermal dysplasia syndromes. Pediatrics. 116(2):e229-234.

Interpretive Summary: The Ectodermal Dysplasia (ED) syndromes are a group of rare genetic disorders that affect the ectodermal tissues of the body, including the skin, hair, nails, teeth, and the sebaceous, eccrine, and apocrine glands. Although the clinical features of the ED syndromes are known, the pattern of growth in ED children has not been characterized. We conducted this research study to characterize the longitudinal pattern of growth in a cohort of children with the ED syndromes. We measured the heights and weights and calculated the body mass indices (BMI) of ED children and supplemented these values with measurements obtained from their available medical records. Mean weight-for-age, weight-for-height, and BMI-for-age z-scores, but not height-for-age z-score, were significantly lower in children with the ED syndromes than in the reference population. Mean weight-for-age and weight-for-height z-scores, but not BMI-for-age or height-for-age z-scores, increased significantly over time with increasing age. The mean height-for-age z-score of children with the ED syndromes other than the hypohidrotic ED syndrome was significantly lower than that of children with this syndrome. This report is the first to document weight deficits in early childhood that persist through adolescence in children affected with the ED syndromes and suggests that differences in linear growth may exist among these rare genetic disorders.

Technical Abstract: Objective. Clinical observations suggested that growth abnormalities may be present in children with Ectodermal Dysplasia (ED) syndromes. This study characterizes the longitudinal pattern of growth in a cohort of children with the ED syndromes. We hypothesized that: 1) linear and ponderal growth abnormalities are present in ED children from infancy through adolescence, and 2) linear and ponderal growth abnormalities differ among the clinical variants of these disorders. Methods. We studied 138 ED children who were registered with the National Foundation for Ectodermal Dysplasias, 74% of whom had clinical features consistent with the hypohidrotic EDs (HEDs). Height (or length) and weight measurements were obtained by standardized techniques and from review of available medical records. We converted these measurements to weight-for-height (children younger than 5 years and less than 103 cm in length) or body mass index (BMI) (children 2 years and older). Height, weight, weight-for-height, and BMI were converted to age- and gender-specific z-scores. We applied linear regression, one-sample t-tests, and analysis of variance to detect linear and ponderal growth abnormalities in ED children compared with a reference population. Results. Mean weight-for-age, weight-for-height, and BMI-for-age z-scores, but not height-for-age z-score, were significantly lower in children with the ED syndromes than in the reference population. Mean weight-for-age and weight-for-height z-scores, but not BMI-for-age or height-for-age z-scores, increased significantly with increasing age. The mean height-for-age z-score of children with the ED syndromes other than the HEDs was significantly lower than that of children with the HEDs. Conclusions. Growth abnormalities, measured as weight deficits, were present at an early age in children with the ED syndromes and persisted through adolescence. Height deficits were seen only in children with ED syndromes other than HEDs. Clinicians should evaluate carefully children with ED syndromes for growth abnormalities.