Focal Dermal Hypoplasia (FDH)

What is Focal Dermal Hypoplasia (FDH)?

Also known as Goltz syndrome, this rare genetic condition affects mainly females.

90% of those diagnosed with the syndrome are female. Males may have only very mild symptoms. Generally the syndrome in its full form is fatal for males very early in their development.

As a multi-system disorder it affects multiple parts of the body in affected individuals.

There have been around 200-300 cases reported worldwide to date.

What gene changes cause Focal Dermal Hypoplasia (FDH)?

The syndrome is caused by changes to the PORCN syndrome. It is inherited in an X-linked dominant pattern.

With syndromes inherited in an X-linked dominant pattern, a mutation in just one of the copies of the gene, causes the syndrome. This can be in one of the female X chromosomes, and in the one X chromosomes males have. Males tend to have more severe symptoms than females.

What are the main symptoms of Focal Dermal Hypoplasia (FDH)?

Goltz syndrome is known as a multi system disorder, meaning it affects many different parts of the body.

The main syndromes affect the skin of affected individuals, as well as the hands, feet and eyes.

These symptoms might include papilloma, or wart-like growths that develop in individuals with age. They can be found all over the body including the gums, tongue, lips, nose, genitalia and anus.

Individuals may have issues with either excessive sweating or conversely an inability to sweat, particularly on their hands and feet.

Other physical features of the syndrome include drooping eyelids, defects in the iris or retina, small or missing eyes, widely spaced eyes, and crossed eyes. Individuals may have missing digits, or digits that have fused together. Features relating to the mouth might include dental and teeth abnormalities, and a cleft lip and palate.

How does someone get tested for Focal Dermal Hypoplasia (FDH)?

The initial diagnosis of Focal Dermal Hypoplasia syndrome can begin with facial analysis screening, as offered by FDNA Telehealth, which can identify the key markers of the syndrome and outline the need for further testing. If further testing is recommended what will follow is a consultation with a genetic counselor and then a geneticist. These consultations will usually involve a comprehensive review of the patient’s medical history, a generational family history documenting health issues and genetic conditions, and a detailed physical examination.

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