Living with Bloom syndrome
An inherited condition with short stature, sun-sensitive skin, and a much higher chance of cancer.
Understanding Bloom syndrome
People are usually smaller than 97 percent of others in height and weight from birth, and rarely exceed 5 feet tall. A butterfly-shaped red patch often appears across the nose and cheeks. Cancers can be of any type and tend to appear earlier in life, sometimes more than one type. Other features include a high-pitched voice, learning disabilities, and repeated infections in infancy. Men usually do not produce sperm.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short stature and slow growth
- Skin rash after sun exposure
- Small lower jaw and narrow face
- Repeated ear and lung infections
- Insulin resistance
- Higher chance of cancer
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include allergy and immune system specialists, blood and bone marrow specialists, bone and joint specialists and brain and nervous system specialists.
- 3Consider genetic testing
Changes in BLM are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Immune Deficiency Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Allergy and immune system specialists (allergists / immunologists); Blood and bone marrow specialists (hematologists); Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists)
- Expert care
- Expert lists: Immune Deficiency Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Bloom Syndrome Association and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the BLM gene cause this condition. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: blm; bloom-torre-machacek syndrome; bs - bloom syndrome; bsyn; congenital telangiectatic erythema syndrome
Patient organizations
- Bloom Syndrome AssociationBloom syndrome · United States
- American Cancer SocietyBloom syndrome · United States
- Cancer Hope NetworkBloom syndrome · United States
- Immune Deficiency FoundationPrimary immunodeficiency · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Bloom syndrome.
Explore research for Bloom syndrome
Explore actively recruiting Bloom syndrome studies with HealthSpark.
Find actively recruiting studies for Bloom syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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