Yunis-Varon syndrome

What is Yunis-Varon syndrome?

It is a rare genetic disease that affects multiple systems of the body. Its main symptoms affect the skeletal and nervous systems, as well as ectodermal tissue (hair and teeth). Since 1980 just 25 cases from 19 families have been diagnosed and recorded.

What gene changes cause Yunis-Varon syndrome?

Mutations in the FIG4 gene are responsible for the majority of the cases of the syndrome.

The syndrome has been reported in families where the parents of the children affected were related by blood. This increases the risk of them passing on a recessive disorder, as Yunis-Varon is.

What are the main symptoms of Yunis-Varon syndrome?

The unique facial features associated with the syndrome include a small head (microcephaly), a tented upper lip, small jaw, as well as sparse or absent eyebrows and eyelashes. Midface hypoplasia is also common with the syndrome, Midface hypoplasia is when the upper jaw, cheekbones and eye sockets have not grown with the rest of the face. This in turn creates a unique appearance.

Developmental delay and intellectual disability is also associated with the syndrome. These are often severe in nature.

Other severe symptoms of the syndrome include the absence or underdevelopment of the collarbones. This can lead to the development of ‘droopy’ shoulders in children affected by the syndrome. In infants the symptom usually leads to the delayed closing of the fontanels on their head.
Digit (finger and toe) abnormalities are also symptoms of the syndrome. This can include absent thumbs, as well as missing bones from the end of fingers and toes. Other bone abnormalities may be present which affect the digits. This often leads to shortened fingers and toes in affected individuals.

Other symptoms might include skeletal abnormalities, heart defects, and urinary tract abnormalities.

How does someone get tested for Yunis-Varon syndrome?

The initial testing for Yunis-Varon 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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