X Linked Hypohidrotic Ectodermal Dysplasia Clinical Trial
Official title:
Phenotypic Properties in Individuals Affected With X-linked Hypohidrotic Ectodermal Dysplasia: Symptoms and Facial Recognition
The current study design incorporates two previously developed, non-invasive approaches to characterize the phenotype of individuals affected with XLHED.
The current study design incorporates two previously developed, non-invasive approaches to
characterize the phenotype of individuals affected with XLHED. Facial 3-dimensional (3D)
imaging will be created from white-field morphometric scanning (Hammond, 2004. The 3D facial
photographs collected from males (ages 4 years and up) will be used to develop a
non-invasive screening tool, which could enable detection of craniofacial signs of XLHED in
the newborn period. 3D facial profiling has been reported to be effective in identifying HED
(Dellavia et al., 2008), but the technology does not yet meet the ease-of-use criteria for a
universal screening tool.
Standard 2-dimensional (2D) frontal and lateral facial photographs will be taken of the same
XLHED-affected male subjects as well as of adult females (ages 18-45 yrs) at risk for being
XLHED carriers and unaffected adult female controls. The 2D facial photographs will serve a
dual purpose; the first being to beta-test a previously developed algorithm to identify
males affected with XLHED (Automatic Phenotype Identification of XLHED Patients Final
Report, December 25, 2012, unpublished), and the second to adapt the facial recognition
algorithm to identify female carriers of XLHED.
;
N/A