Peters plus syndrome

What is Peters plus syndrome?

Also known as Krause-Kivlin syndrome, this rare genetic condition may affect multiple parts of the body. The most commonly affected part of the body is the eyes.

What gene changes cause Peters plus syndrome?

Changes in the B3GLCT gene which stop it working properly are responsible for causing the syndrome.

It is inherited in an autosomal recessive pattern.

What are the main symptoms of Peters plus syndrome?

The main symptom of the syndrome is known as Peters anomaly. This causes abnormalities in the structures in the front of the eye.

Other main symptoms include growth delay and restricted growth as well as shorter limbs than normal.

Unique facial features including an extended face, long philtrum and a cupid bow shaped lip. Most individuals also have a cleft lip and or palate.

Intellectual disability and developmental delay are also common with the syndrome.

Syndromes may vary widely between individuals in terms of their presence and severity.

How does someone get tested for Peters plus syndrome?

The initial testing for Peters plus 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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