Paula and Bobby
Parents of Lillie
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked (XHED)
What is Ectodermal Dysplasia 1, Hypohidrotic, X-Linked (XHED)?
Ectodermal Dysplasia is a diverse group of genetic disorders, thought to number over 180 types.
These congenital disorders are characterized by abnormalities in two or more ectodermal structures such as the hair, nails, teeth, or sweat glands; but without any other systemic findings.
What gene changes cause Ectodermal Dysplasia 1, Hypohidrotic, X-Linked (XHED)?
The disorder is X-linked, and the result of mutations in the EDA gene. These mutations affect the ectoderm, the layer of cells around the outside of the body of the developing fetus from which the hair, skin and nails develop. This triggers the abnormal tissue growth associated with the syndrome.
Syndromes inherited in an X-linked recessive pattern generally only affect males. Males only have one X chromosome, and so one copy of a gene mutation on it causes the syndrome. Females, with two X chromosomes, only one of which will be mutated, are not likely to be affected.
What are the main symptoms of Ectodermal Dysplasia 1, Hypohidrotic, X-Linked (XHED)?
The type of syndromes an individual may have will depend on which type of the disorder they have.
Different types of the disorder trigger different physical symptoms which may vary in degree and severity between individuals.
Possible symptoms include teeth abnormalities, spare and or absent hair, and skin issues.
How does someone get tested for Ectodermal Dysplasia 1, Hypohidrotic, X-Linked (XHED)?
The initial testing for Ectodermal Dysplasia syndrome can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow.
Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.
What is FDNA Telehealth?
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