Char syndrome (CHAR)

What is Char syndrome (CHAR)?

This rare disease is a genetic condition that presents with 3 identifying features.

These are distinct facial features, a heart condition (patent ductus arteriosus) and hand abnormalities.

What gene changes cause Char syndrome (CHAR)?

Mutations to the TFAP2B gene cause Char 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 Char syndrome (CHAR)?

There are 3 main, identifying symptoms of the syndrome:

1. Distinct facial features: including a depressed nasal bridge, depressed nasal ridge, down slanted palpebral fissures (eyelid openings), wide set eyes, a dropping lower jaw and triangular mouth

2. Heart condition: patent ductus arteriosus (where the patent ductus fails to close after birth allowing blood to flow from the left side of the heart from the aorta into the lungs

3. Hand abnormalities: a permanent curving of the 5th finger






How does someone get tested for Char syndrome (CHAR)?

The initial testing for Char 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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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.

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