Craniofacial morphometric analysis of individuals with X‐linked hypohidrotic ectodermal dysplasia

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 recessiv...

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Published in:	Molecular genetics & genomic medicine Vol. 2; no. 5; pp. 422 - 429
Main Authors:	Goodwin, Alice F., Larson, Jacinda R., Jones, Kyle B., Liberton, Denise K., Landan, Maya, Wang, Zhifeng, Boekelheide, Anne, Langham, Margaret, Mushegyan, Vagan, Oberoi, Snehlata, Brao, Rosalie, Wen, Timothy, Johnson, Ramsey, Huttner, Kenneth, Grange, Dorothy K., Spritz, Richard A., Hallgrímsson, Benedikt, Jheon, Andrew H., Klein, Ophir D.
Format:	Journal Article
Language:	English
Published:	United States John Wiley & Sons, Inc 01-09-2014 Blackwell Publishing Ltd
Subjects:	3D imaging Age Chin craniofacial development Craniofacial growth Dysplasia Ectodysplasin Genotype & phenotype geometric morphometrics Hypoplasia Jaw Mandible Mathematical morphology Morphology Morphometry Mutation Original Phenotypes Quantitative analysis Skin Sweat Sweat gland Teeth X‐linked hypohidrotic ectodermal dysplasia ectodysplasin 3D imaging X-linked hypohidrotic ectodermal dysplasia craniofacial development geometric morphometrics
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Summary:	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. In this study, we 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. We 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. Our 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. X‐linked hypohidrotic ectodermal dysplasia (XLHED) is characterized by missing or malformed ectodermal structures, including skin, hair, sweat glands, and teeth. We quantitatively analyzed the XLHED craniofacial phenotype using 3D imaging and geometric morphometrics (GM) and found that individuals with XLHED have a distinct craniofacial phenotype that differed significantly from controls. Our findings extend the phenotype of XLHED and may be useful for both clinical diagnosis and treatment of XLHED.
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 Equal contribution. Funding Information Edimer Pharmaceuticals provided funding for this study. The authors are also funded in part by fellowships and grants from the National Institutes of Health (F30-DE022205 to A. F. G.; K99-DE022059 to A. H. J.; U01-DE020054 to R. A. S., B. H. and O. D. K.; R01-DE01963 and R01-DE021708 to B. H.; and R01-DE021420 to O. D. K.). R. A. S. received a Forensic Science Research and Development Grant (2013-DN-BX-K005) from the National Institute of Justice. J. R. L. is supported through the Canadian Institutes of Health Research Training Program in Genetics, Child Development & Health Graduate Studentship.
ISSN:	2324-9269 2324-9269
DOI:	10.1002/mgg3.84