Paula and Bobby
Parents of Lillie
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.
What is FDNA Telehealth?
FDNA Telehealth is a leading digital health company that provides faster access to accurate genetic analysis.
With a hospital technology recommended by leading geneticists, our unique platform connects patients with genetic experts to answer their most pressing questions and clarify any concerns they may have about their symptoms.
Benefits of FDNA Telehealth
Our platform is currently used by over 70% of geneticists and has been used to diagnose over 250,000 patients worldwide.
FDNA Telehealth provides facial analysis and screening in minutes, followed by fast access to genetic counselors and geneticists.
Ease of Use
Our seamless process begins with an initial online diagnosis by a genetic counselor and follows by consultations with geneticists and genetic testing.
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Advanced artificial intelligence (AI) capabilities and technology with a 90% accuracy rate for a more accurate genetic analysis.
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