Potocki-Shaffer syndrome

What is Potocki-Shaffer syndrome?

It is a rare genetic syndrome that affects the bones, brain tissue and other tissue in the body. The syndrome also presents with multiple, non cancerous bone tumors that very rarely become cancerous. There are currently less than 100 reported cases of the syndrome reported worldwide. It is also known as proximal 11p deletion syndrome.

What gene changes cause Potocki-Shaffer syndrome?

The syndrome is caused by the deletion of genetic material at the short arm of chromosome 11. This could amount to the deletion of as many as 2.1 million DNA data blocks. This deletion causes the symptoms of the syndrome. The deletion of the specific genes, EXT2, ALX4, and PHF21A, causes specific symptoms associated with the syndrome.

The syndrome can be inherited in an autosomal dominant pattern of inheritance. But in most cases it is the result of a de novo mutation that occurs during the process of reproduction.

What are the main symptoms of Potocki-Shaffer syndrome?

The main symptoms of the syndrome include the development of noncancerous bone tumors, known nas osteochondromas. Very rarely do these tumors become cancerous.

Individuals with the syndrome also have abnormal openings on the top of the skulls. These create an extra soft spot on the head which does not close as the ones all infants are born with do.
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Intellectual disability as well as delayed development is also a main symptom of the syndrome. Individuals also tend to have delayed social skills as well.

Unique facial features of the syndrome include a wide and short skull, a prominent forehead, a narrow bridge of the nose, a shorter than average philtrum and a mouth that is downturned.

How does someone get tested for Potocki-Shaffer syndrome?

The initial testing for Potocki-Shaffer 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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