SHORT syndrome

What is SHORT syndrome?

This rare disease is a multi-system genetic condition, meaning it affects multiple systems and organs of the body.

There are currently less than 50 cases of this rare disease recorded worldwide, to date.

The syndrome is named for its main symptoms: short stature, ocular depression, Rieger anomaly and teething delay.

What gene changes cause SHORT syndrome?

Mutations in the PIK3R1 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.

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 SHORT syndrome?

The main symptoms include a short stature, and a delay in the eruption of an individual's teeth.

The syndrome also presents with Rieger anomaly which means issues with the eyes and potentially glaucoma, hyperextensibility in the joints, the potential for intestinal hernias, as well as ocular depression or deep set eyes.

The syndrome may affect multiple organs within the body and present with multiple birth defects. Growth may be affected in the uterus and a low birth weight is to be expected.

The main facial features of the condition include a triangular face, small chin with a dimple, the loss of fat under the skin, hearing loss and abnormally placed ears.

How does someone get tested for SHORT syndrome?

The initial testing for SHORT 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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