Growth, nutritional, and gastrointestinal aspects of focal dermal hypoplasia (Goltz-Gorlin syndrome)

Am J Med Genet C Semin Med Genet. 2016 Mar;172C(1):29-33. doi: 10.1002/ajmg.c.31468. Epub 2016 Feb 1.

Abstract

Focal dermal hypoplasia (FDH) is a rare genetic disorder caused by mutations in the PORCN gene located on the X-chromosome. In the present study, we characterized the pattern of growth, body composition, and the nutritional and gastrointestinal aspects of children and adults (n = 19) affected with this disorder using clinical anthropometry and a survey questionnaire. The mean birth length (P < 0.06) and weight (P < 0.001) z-scores of the participants were lower than the reference population. The mean head circumference (P < 0.001), height (length) (P < 0.001), weight (P < 0.01), and BMI (P < 0.05) for age z-scores of the participants were lower than the reference population. The height-for-age and weight-for-age z-scores of the participants did not differ significantly between birth and current measurements. Three-fourths of the group reported having one or more nutritional or gastrointestinal problems including short stature (65%), underweight (77%), oral motor dysfunction (41%), gastroesophageal reflux (24%), gastroparesis (35%), and constipation (35%). These observations provide novel clinical information about growth, body composition, and nutritional and gastrointestinal aspects of children and adults with FDH and underscore the importance of careful observation and early clinical intervention in the care of individuals affected with this disorder.

Keywords: anthropometry; body fat; body height; body weight; constipation; ectodermal dysplasia; gastroesophageal reflux; gastroparesis; gastrostomy; growth; malnutrition; short stature.

Publication types

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

MeSH terms

  • Adolescent
  • Adult
  • Body Composition
  • Body Weights and Measures
  • Child
  • Child, Preschool
  • Female
  • Focal Dermal Hypoplasia / diagnosis*
  • Focal Dermal Hypoplasia / genetics
  • Humans
  • Infant
  • Male
  • Middle Aged
  • Nutritional Status
  • Phenotype*
  • Young Adult