Craniofacial Morphometric Analysis of Individuals with X-linked Hypohidrotic Ectodermal Dysplasia

• NCJ Number: 248813
• Author(s): Alice F. Goodwin; Jacinda R. Larson; Kyle B. Jones; Denise K. Liberton; Maya Landan; Zhifeng Wang; Anne Boekelheide; Margaret Langham; Vagan Mushegyan; Snehlata Oberoi; Rosalie Brao; Timothy Wen; Ramsey Johnson; Kenneth Huttner; Dorothy K. Grange; Richard A. Spritz; Benedikt Hallgrimsson; Andrew H. Jheon; Ophir D. Klein
• Date Published: September 2014
• Length: 8 pages
• Grant Number(s): 2013-DN-BX-K005
• Agencies: NIJ-Sponsored
• Publication Type: Research (Applied/Empirical); Report (Study/Research); Report (Grant Sponsored)
• Award: Genetic Analysis of Facial Shape and Appearance

Annotation

This study characterized craniofacial morphology in subjects with X-linked hypohidrotic ectodermal dysplasia (XLHED) by use of 3D imaging and geometric morphometrics (GM), a technique that uses defined landmarks to quantify size and shape in complex craniofacial morphologies.

Abstract

Hypohidrotic ectodermal dysplasia (HED) is the most prevalent type of ectodermal dysplasia (ED). ED is an umbrella term for a group of syndromes characterized by missing or malformed ectodermal structures, including skin, hair, sweat glands, and teeth. The X-linked recessive (XL), autosomal recessive (AR), and autosomal dominant (AD) types of HED are caused by mutations in the genes encoding ectodysplasin (EDA1), EDA receptor (EDAR), or EDAR-associated death domain (EDARADD). Patients with HED have a distinctive facial appearance, yet a quantitative analysis of the HED craniofacial phenotype using advanced three-dimensional (3D) technologies has not been reported. The current study found that the XLHED craniofacial phenotype differed significantly from controls. Patients had a smaller and shorter face with a proportionally longer chin and midface, prominent midfacial hypoplasia, a more protrusive chin and mandible, a narrower and more pointed nose, shorter philtrum, a narrower mouth, and a fuller and more rounded lower lip. These findings refine the phenotype of XLHED and may be useful both for clinical diagnosis of XLHED and to extend understanding of the role of EDA in craniofacial development. (Publisher abstract modified)