Bloom Syndrome

What is Bloom syndrome?

Bloom syndrome is an inherited (genetic) condition that causes changes to many systems in your body. People with Bloom syndrome are at increased risk for infections, significant growth delays, sun sensitivities and cancer.

Who does Bloom syndrome affect?

Bloom syndrome is rare in all populations but is most common among people of Ashkenazi (Eastern European) Jewish descent.

How will Bloom syndrome affect me or my child?

People with Bloom syndrome may:

• Be shorter than average.
• Have narrow faces with large ears.
• Have high-pitched voices.

They’re also at higher risk of developing certain conditions, including:

• Chronic obstructive pulmonary disease (COPD).
• Recurrent infections.
• Insulin resistance and diabetes.
• Rash when exposed to sunlight.

Bloom syndrome increases the risk of many cancers, especially at a younger age, and the chance of getting more than one cancer is significantly increased as well. People with Bloom syndrome may have an increased risk of developing cancers including:

• Wilms tumor.
• Gastrointestinal (digestive system) cancers.
• Leukemia.
• Lymphoma.
• Osteosarcoma.
• Skin cancer (particularly squamous cell cancer).

Does Bloom syndrome have any other names?

Bloom syndrome is also known as Bloom-Torre-Machacek syndrome and congenital telangiectatic erythema.

How common is Bloom syndrome?

Bloom syndrome is rare. Healthcare providers know of fewer than 300 people worldwide who have this condition.

What causes Bloom syndrome?

Bloom syndrome is a genetic disorder that children may inherit from their parents. In people with Bloom syndrome, the BLM gene doesn’t function as it should.

Each parent contributes chromosomes that contain a copy of the BLM gene to their baby. If both parents have a change (mutation) in one of their two BLM genes, then their child has a 1 in 4 chance of developing Bloom syndrome when they inherit a mutation from both parents.

What are the symptoms of Bloom syndrome?

Bloom syndrome causes many different symptoms. But not every person with Bloom syndrome has every symptom. Bloom syndrome symptoms, which range from mild to severe, include:

• Abnormalities in certain features, including your jaw, face and ears.
• Changes to your endocrine system and immune system.
• Developmental delays and intellectual differences.
• Extreme sun sensitivity.
• Frequent infections, especially ear infections and infections of your lungs.
• Growth problems during fetal development or after birth.
• Problems with your skin (especially a red rash or lesions after sun exposure).

How do healthcare providers diagnose Bloom syndrome?

Healthcare providers sometimes diagnose Bloom syndrome during pregnancy. When the fetus isn’t growing as it should, providers may do genetic amniocentesis, a type of prenatal testing, to check for the condition. Or after your baby is born, you or your baby’s healthcare provider may notice symptoms of Bloom syndrome.

What tests do healthcare providers use to diagnose Bloom syndrome?

Healthcare providers do a physical examination of your baby during a well-baby care visit. They may draw blood to do a blood test that checks the makeup of chromosomes.

How do healthcare providers treat Bloom syndrome?

There isn’t a specific treatment for this condition. Bloom syndrome treatment focuses on treating and managing any symptoms.

Feeding issues are common in babies who have Bloom syndrome. Your healthcare provider may recommend extra fluids and feedings for your baby to prevent dehydration and malnutrition.

In people of all ages with Bloom syndrome, providers will recommend various cancer screenings and may prescribe antibiotics to treat infections.

How can I prevent Bloom syndrome?

Bloom syndrome is an inherited condition. There isn’t anything you can do to prevent or stop the gene mutation.

Before getting pregnant, you and your partner can undergo genetic testing to find out whether you have mutations in the BLM gene associated with Bloom syndrome.

What can I expect if my child or I have Bloom syndrome?

If you have Bloom syndrome, your risk of developing certain cancers by early adulthood increases. Complications from cancer are the leading cause of death in people with Bloom syndrome. But detecting cancer early gives you the best chance for successful treatment. Follow your healthcare provider’s recommendations for regular cancer screenings.

People with Bloom syndrome are sensitive to ionizing radiation, which can damage cells. Your provider may recommend that you avoid or limit radiation exposure, including:

• CT scan.
• X-ray.

If you develop cancer, Bloom syndrome may affect your cancer treatment. Providers often recommend that people with Bloom syndrome avoid radiation therapy.

Is Bloom syndrome curable?

There isn’t a cure for Bloom syndrome — you or your child will always have it. Many people with Bloom syndrome live into adulthood.

How do I take care of my child or myself with Bloom syndrome?

Follow your healthcare provider’s instructions to keep your child or you as healthy as possible. Apply sunscreen frequently and wear protective clothing and hats whenever you’re outside to protect yourself or your child from sun damage.

A note from Cleveland Clinic

Bloom syndrome is a rare genetic condition that causes changes in growth and facial features, skin rash and frequent infections. Children and adults with Bloom syndrome are at increased risk for many types of cancer. Talk with your healthcare provider about regular cancer screenings and steps you can take to stay healthy.