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

• Published in: American journal of medical genetics. Part C, Seminars in medical genetics Vol. 172C; no. 1; pp. 29 - 33
• Main Authors: Motil, Kathleen J., Fete, Mary, Fete, Timothy J.
• Format: Journal Article
• Language: English
• Published: United States Blackwell Publishing Ltd 01.03.2016; Wiley Subscription Services, Inc
• Subjects: Adolescent; Adult; Adults; Age; Anthropometry; Birth; Body Composition; body fat; body height; Body mass; body weight; Body Weights and Measures; Child; Child, Preschool; Children; Constipation; ectodermal dysplasia; Female; Focal dermal hypoplasia; Focal Dermal Hypoplasia - diagnosis; Focal Dermal Hypoplasia - genetics; Gastroesophageal reflux; gastroparesis; gastrostomy; Genetic disorders; Genetics; Gorlin syndrome; growth; Humans; Hypoplasia; Infant; Intervention; Male; malnutrition; Middle Aged; Motor task performance; Mutation; Nutritional Status; Phenotype; short stature; Skin; Underweight; Young Adult; body weight; constipation; malnutrition; ectodermal dysplasia; gastroesophageal reflux; anthropometry; short stature; growth; body height; gastrostomy; gastroparesis; body fat
• ISSN: 1552-4868; 1552-4876
• DOI: 10.1002/ajmg.c.31468

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. © 2016 Wiley Periodicals, Inc.