Schinzel-Giedion Midface Retraction syndrome

What is Schinzel-Giedion Midface Retraction syndrome?

This rare disease is a congenital genetic condition. This neurodegenerative syndrome has a low life expectancy for individuals affected, and very few affected survive childhood.

The most common cause of death is from respiratory or breathing problems.

What gene changes cause Schinzel-Giedion Midface Retraction syndrome?

The syndrome is caused by new mutations in the SETBP1 gene. Research is still ongoing into the exact causes and symptoms of the syndrome.

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

What are the main symptoms of Schinzel-Giedion Midface Retraction syndrome?

The main physical characteristics of the syndrome include midface retraction, a wide mouth and very large tongue, a large forehead, wide-set eyes and a short nose.

The condition also causes a number of serious health conditions including congenital heart problems, maybe related to the valves of the heart. Kidney and urinary issues are also common. As are genital and skeletal abnormalities in individuals affected.

Individuals also present with developmental delay and severe intellectual disability.

The condition is fatal, and life expectancy is short, with most individuals not making it past childhood.

How does someone get tested for Schinzel-Giedion Midface Retraction syndrome?

The initial testing for Schinzel-Giedion Midface Retraction 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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