Can people with Bloom syndrome have kids?
Men with Bloom syndrome usually do not produce sperm and as a result are unable to father children (infertile). Women with the disorder generally have reduced fertility and experience menopause at an earlier age than usual.
How is Bloom’s syndrome treated?
Although there is currently no treatment aimed at the underlying genetic abnormality, persons with Bloom’s syndrome benefit from sun protection, aggressive treatment of infections, surveillance for insulin resistance, and early identification of cancer.
What happens to the body with Bloom syndrome?
A rare, inherited disorder marked by shorter than average height, a narrow face, a red skin rash that occurs on sun-exposed areas of the body, and an increased risk of cancer. The rash usually occurs on the face, arms, and back of the hands.
What is the life expectancy of someone with Bloom syndrome?
Males are infertile; females enter menopause prematurely. There are fewer than 200 known surviving cases of Bloom syndrome worldwide. Lifespan is limited; the average age of death is 27 years. The most common cause of death is from cancer. See, also, Resources for a New Diagnosis.
What is the average lifespan of someone with Bloom syndrome?
There are fewer than 200 known surviving cases of Bloom syndrome worldwide. Lifespan is limited; the average age of death is 27 years. The most common cause of death is from cancer. A genetic condition that appears only in individuals who have received two copies of an autosomal gene, one copy from each parent.
How do you test for Bloom syndrome?
The diagnosis of Bloom syndrome (congenital telangiectatic erythema) can be confirmed or excluded by a laboratory test known as a chromosome study; blood and skin cells show a characteristic pattern of chromosome breakage and rearrangement.
Is Bloom syndrome fatal?
What is the Bloom Syndrome Registry?
The Bloom Syndrome Registry at Weill Cornell Medicine is a cooperative clinical and investigational effort involving medical professionals with experience caring for people with Bloom syndrome and addressing the needs of the Bloom syndrome community.
How is Bloom syndrome diagnosed?
Bloom syndrome is caused by genetic variants in the BLM gene and is inherited in an autosomal recessive pattern. Diagnosis is based on the symptoms, a clinical examination, and confirmed by the results of genetic testing. What Information Does GARD Have For This Disease?
What causes Bloom syndrome?
A single mutation, known as BLMAsh, is responsible for over 90% cases of Bloom syndrome among Ashkenazi Jews. Recessive genetic disorders occur when an individual inherits the same abnormal gene for the same trait from each parent.
What is the prognosis of Bloom syndrome?
The cell may die, or in some cases the damaged cells may continue to grow in an abnormal fashion and result in cancer. Bloom syndrome is rare, with about 283 cases reported to the Bloom Syndrome Registry.