Hemifacial Microsomia

What is Hemifacial Microsomia?

Hemifacial (one side of the face) Microsomia is a rare disease, the defining feature of which is the underdevelopment of one half of the face. This underdevelopment may be mild or severe. It is known to vary from individual to individual. However in every individual diagnosed, an undeveloped lower jaw is a consistent feature.

What gene changes cause Hemifacial Microsomia?

There is some evidence to suggest that it is an inherited condition, as there have been cases of the syndrome reported within the same family. However the exact gene that may be responsible has yet to be identified.

The current research suggests the syndrome is caused by a disruption in the development of the fetus, during the first 6 weeks of a pregnancy. Whether environmental factors may also contribute to this is as yet unknown.

The exact mode of inheritance was unknown at the time this entry was recorded.

What are the main symptoms of Hemifacial Microsomia?

The main symptoms of the syndrome affect the face. Underdeveloped low and upper jaws are the main feature. As well as a mouth that slants upward. These features may in turn make it difficult for individuals to chew.

Some individuals have a flattened cheek and forehead on the underdeveloped side of the face, and one eye socket may also be smaller. General facial asymmetry is common, and this may result in a loss of sensation in the affected half of the face and a weakness in the muscles.

Other features relating to the face include excess skin around the ears, underdeveloped and occasionally an absent ear, absent or underdeveloped inner ear structures and as a result hearing loss too.

The syndrome is a spectrum disorder which means that each part of the face affected may vary in its severity. The symptoms may also vary within families affected by the syndrome.

How does someone get tested for Hemifacial Microsomia?

The initial testing for Hemifacial Microsomia (Goldernhar 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

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