Bloom syndrome

Overview

Type of disease: Rare conditions

Bloom syndrome is a genetic condition that affects height, skin, and increases the risk of cancer. Individuals with Bloom syndrome are shorter than the rest of their family (short stature) and develop a red butterfly shaped rash on the face, along with rashes on other areas of the skin that are exposed to the sun. These rashes usually have abnormally large blood vessels (telangiectases). Other skin features include dark and light spots on the part of the skin that is not exposed to the sun. People with Bloom syndrome have a high pitched voice and unique facial features, including a long narrow face, a small jaw, and large ears and nose. Additional features of Bloom syndrome may include a weakened immune system that increases the risk for respiratory infections, chronic obstructive pulmonary disease (COPD), increased risk for diabetes, and learning issues. Bloom syndrome also causes a significantly increased risk of all cancer types.

Bloom syndrome is caused by a change (mutation) in the BLM gene and is inherited in an autosomal recessive way, which means a person must have a mutation in both copies of the BLM gene to have the condition. The BLM gene provides an instruction to the body to make a protein called RecQ helicase, which helps maintains DNA. When the BLM gene is mutated, the RecQ helicase protein cannot function correctly, leading to chronic damage to the DNA and abnormal cell function. This damage and abnormal cell function is the cause of the symptoms seen in Bloom syndrome.

A diagnosis of Bloom syndrome is considered in a child who has short stature and sensitive skin. Genetic testing is used to confirm the diagnosis. Treatment usually includes avoiding sun exposure and monitoring for cancer. If your child has been diagnosed with Bloom syndrome, talk with their doctor about all treatment options. Support groups are also a good source of information.

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