Simpson-Golabi-Behmel syndrome, Type 1

What is Simpson-Golabi-Behmel syndrome, Type 1?

It is a rare genetic syndrome that affects multiple parts of the body. The syndrome occurs mainly in males due to its mode of inheritance. The syndrome is an overgrowth syndrome, meaning it triggers excessive growth both before birth and after.

What gene changes cause Simpson-Golabi-Behmel syndrome, Type 1?

Changes to the GPC3 gene are responsible for causing the syndrome.

It is an X-linked syndrome meaning that the mutated gene responsible for causing the syndrome is located on the X chromosome. This is why the syndrome is more common and severe in males, who have just one X chromosome. Females, with two x chromosomes receive just one copy of the altered gene and are thus less likely to be affected.

What are the main symptoms of Simpson-Golabi-Behmel syndrome, Type 1?

Overgrowth is the main symptom of this rare disease. But the syndrome also presents with unique facial features including widely spaced eyes, a large mouth and tongue, broad nose and anomalies with the palate of the mouth. Another name for these facial features is coarse features.

The syndrome also affects the chest and abdomen. Some individuals are born with extra nipples, an opening in the muscle that covers the abdomen and one of several types of hernias.

Other health conditions associated with the syndrome include heart defects, larger than average kidneys, enlarged liver and spleen and abnormalities relating to the skeletal system.
In some cases individuals develop either cancerous or non cancerous tumors. Specifically Wilms tumor, which is a rare type of kidney cancer.

How does someone get tested for Simpson-Golabi-Behmel syndrome, Type 1?

The initial testing for Simpson-Golabi-Behmel syndrome, Type 1 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.

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