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Bloom syndrome
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Condition

Bloom syndrome

Bloom syndrome is a rare inherited disorder characterized by short stature, a distinctive sun-sensitive skin rash, and a significantly increased risk of various cancers.

Overview

Bloom syndrome is an inherited disorder characterized by short stature, a skin rash that develops after exposure to the sun, and a greatly increased risk of cancer.

People with Bloom syndrome are usually smaller than 97 percent of the population in both height and weight from birth, and they rarely exceed 5 feet tall in adulthood.

Affected individuals have skin that is sensitive to sun exposure, and they usually develop a butterfly-shaped patch of reddened skin across the nose and cheeks. A skin rash can also appear on other areas that are typically exposed to the sun, such as the back of the hands and the forearms. Small clusters of enlarged blood vessels (telangiectases) often appear in the rash; telangiectases can also occur in the eyes. Other skin features include patches of skin that are lighter or darker than the surrounding areas (hypopigmentation or hyperpigmentation respectively). These patches appear on areas of the skin that are not exposed to the sun, and their development is not related to the rashes.

People with Bloom syndrome have an increased risk of cancer. They can develop any type of cancer,

Frequently Asked Questions

Individuals with Bloom syndrome should strictly avoid direct sun exposure, especially during peak hours. This includes wearing protective clothing (long sleeves, hats), using broad-spectrum sunscreen with high SPF daily, and seeking shade whenever outdoors. Regular skin checks for new rashes or changes are also important.
Due to the high cancer risk, a personalized and intensive cancer surveillance plan is crucial, often starting in childhood. This may include frequent physical exams, blood tests, imaging studies (e.g., ultrasound, MRI), and endoscopy, tailored to the individual's age and specific risk factors, under the guidance of an oncologist.
Maintaining a healthy lifestyle with a balanced diet and regular, moderate exercise is generally recommended. Avoiding smoking and excessive alcohol consumption is particularly important given the increased cancer risk. Regular medical follow-ups and prompt attention to any new symptoms are vital for overall health management.
Bloom syndrome is inherited in an autosomal recessive pattern, meaning a child must inherit two copies of the mutated gene (one from each parent) to develop the condition. Parents who are carriers typically do not have the syndrome but have a 25% chance with each pregnancy of having an affected child. Genetic counseling is highly recommended for families to understand carrier status and reproductive options.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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