Bloom's Syndrome

Bloom's Syndrome (also known as Bloom-Torre-Machacek syndrome) is a rare autosomal recessive genetic disorder characterized by short stature, sun-sensitive skin changes, immunodeficiency, and a greatly increased risk of developing cancer at an early age.

Individuals with Bloom's syndrome are typically smaller than 97% of the population from birth and remain short throughout their lives. They often develop a distinctive facial appearance, including a narrow face, prominent nose and ears, and a characteristic butterfly-shaped skin rash across the nose and cheeks that worsens with sun exposure.

The most serious complication is a dramatically elevated risk of cancer. People with Bloom's syndrome can develop many different types of cancer, including leukemia, lymphoma, and tumors of the digestive tract, at much younger ages than in the general population. Some individuals develop multiple different cancers over their lifetime.

Bloom's syndrome is caused by mutations in the BLM gene, which provides instructions for a protein called BLM RecQ-like helicase. This protein plays a critical role in maintaining genome stability during DNA replication. The condition is more prevalent among individuals of Ashkenazi Jewish descent.

NutraHacker examines the following gene related to Bloom's Syndrome:

• BLM

For more information about your own genetic profile as related to Bloom's Syndrome, please check out our NutraHacker Carrier Status and Drug Response Report.

Or to get going without any further delay, upload raw DNA data and find out more about your carrier status today.