Shprintzen-Goldberg Craniosynostosis syndrome (SGS)

What is Shprintzen-Goldberg Craniosynostosis syndrome (SGS)?

This rare disease is a very rare genetic condition that affects the connective tissue of the body.

The main syndromes concern the skeletal, facial and cardiovascular parts of the body.

There are, to date, less than 50 patients worldwide diagnosed with the condition.

What gene changes cause Shprintzen-Goldberg Craniosynostosis syndrome (SGS)?

Mutations in the SKI gene are responsible for causing the syndrome. It is inherited in an autosomal dominant pattern.

In the case of autosomal dominant inheritance just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation.

What are the main symptoms of Shprintzen-Goldberg Craniosynostosis syndrome (SGS)?

The main symptom of the syndrome is the premature fusing of the cranial, the part of the skull that encases the brain, bones in infancy.

Characteristic physical features of the syndrome include a narrow and long skull, wide-set eyes, low set ears, a receding chin, bulging eye or eyes, flat feet, long and elongated fingers and toes and a high palate.

Other potential health conditions include weak muscle tone, and hernias.

Severe developmental delays and intellectual disability are also common features of the condition.

How does someone get tested for Shprintzen-Goldberg Craniosynostosis syndrome (SGS)?

The initial testing for Shprintzen-Goldberg Craniosynostosis 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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