Greig Cephalopolysyndactyly syndrome (GCPS)

What is Greig Cephalopolysyndactyly syndrome (GCPS)?

This rare disease is a genetic condition of which very few cases have been diagnosed and reported.

The main symptoms of the syndrome affect the limbs, head and face of an affected individual.

Symptoms may vary widely between individuals.

What gene changes cause Greig Cephalopolysyndactyly syndrome (GCPS)?

Changes in the GLI3 gene cause the syndrome. It is inherited in an autosomal dominant pattern, or may be the first case in a family.

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.

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)?

The main symptoms of the syndrome affect the fingers and toes of an individual. These features include extra fingers and toes, a very wide thumb or very large toe, and fused skin between the fingers and toes.

The facial features of the syndrome include widely spaced eyes, a very large head, and a high prominent forehead.

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

The initial diagnosis of Greig Cephalopolysyndactyly can begin with facial analysis screening, as offered by FDNA Telehealth, which can identify the key markers of the syndrome and outline the need for further testing. If further testing is recommended what will follow is a consultation with a genetic counselor and then a geneticist. These consultations will usually involve a comprehensive review of the patient’s medical history, a generational family history documenting health issues and genetic conditions, and a detailed physical examination.

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