Greig Cephalopolysyndactyly syndrome (GCPS)

What is Greig Cephalopolysyndactyly syndrome (GCPS)?

This rare disease is a very rare genetic syndrome, the exact prevalence of which is currently unknown.

It is a congenital (symptoms and features are present at birth) disorder that mainly affects the limbs, head and face.

What gene changes cause Greig Cephalopolysyndactyly syndrome (GCPS)?

The syndrome is the result of mutations in the GLI3 gene, or due to deletions on chromosome 7 which holds the GLI3 gene. 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 Greig Cephalopolysyndactyly syndrome (GCPS)?

Physical features of the syndrome affect mainly the digits, and specifically the fingers. They include the presence of an extra finger or two. The fusion of the skin between the fingers and toes is also common.

Unique facial features include, widely spaced eyes, a prominent forehead, very wide thumbs and big toes. A very large head is also a symptom.

Syndromes may vary between individuals and more severe symptoms include intellectual disability, seizures and developmental delay.

How does someone get tested for Greig Cephalopolysyndactyly syndrome (GCPS)?

The initial testing for Greig Cephalopolysyndactyly 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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