Hemifacial Atrophy, Progressive (HFA)

What is Hemifacial Atrophy, Progressive (HFA)?

This rare craniofacial disease is a degenerative and progressive syndrome that affects the symmetry of the face and which then in turn causes related facial features and characteristics.

This rare disease is progressive, meaning its symptoms and features of the syndrome worsen over time.

There are 3 types of the syndrome, and it is believed to be a form of linear scleroderma, specifically ECDS.

What gene changes cause Hemifacial Atrophy, Progressive (HFA)?

The exact cause of the syndrome is not yet known. It has been suggested that it may be an autoimmune disorder, possibly triggered by trauma or environmental factors.

It has no known mode of inheritance, it appears to be sporadic, and not related to a family history in any way.

In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation which occurs during the reproductive process.

What are the main symptoms of Hemifacial Atrophy, Progressive (HFA)?

The main symptom of the syndrome is progressive atrophy of the face, in which one side (although sometimes it occurs in both sides of the face), of the face experiences skin degeneration. It usually occurs slowly, beginning in later childhood or even later into adulthood, and rarely in infancy. This degeneration may also affect the arm, trunk and leg.

This facial symmetry then causes a number of other features, including alopecia, hyperpigmentation of the skin, facial nerve pain, eye problems including deep set eyes and a small lower jaw, as well as tongue atrophy.

How does someone get tested for Hemifacial Atrophy, Progressive (HFA)?

The initial diagnosis of Hemifacial Atrophy, Progressive (Parry Romberg) syndrome can begin with facial genetic 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. Based on this clinical consultation, the options and recommendations for genetic testing will be shared with the individual’s parents/guardians and consent will be sought for further testing. This process may take place over the course of several clinic visits. Genetic testing will involve a blood sample. Results from the testing will then be sent back to the geneticist who will explain the resulting report in detail with the parents/guardians of the individual being tested

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