There isn't a cure for Bloom syndrome — you or your child will always have it. Many people with Bloom syndrome live into adulthood.
There are fewer than 200 known surviving cases of Bloom syndrome worldwide. Lifespan is limited; the average age of death is 27 years.
How Is Bloom Syndrome Treated? There is no cure for Bloom syndrome. Children with Bloom syndrome need nutritional monitoring to ensure maximum growth. People with the disease are advised to stay out of the sun and wear sunscreen to prevent skin lesions, particularly during childhood.
People with Bloom syndrome appear to have 150-300 times the risk of developing cancerous growths as do people without this disorder. Most people with Bloom syndrome are likely to develop cancer over their lifetimes.
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.
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.
Bloom syndrome is rare in all populations but is most common among people of Ashkenazi (Eastern European) Jewish descent.
About Bloom syndrome
Population Estimate:Fewer than 50,000 people in the U.S. have this disease. Symptoms:May start to appear during Pregnancy and as a Newborn. Cause:This condition has more than one possible cause.
Various mutations in what's known as the BLM gene cause Bloom syndrome, an inherited autosomal recessive disorder. This means that each parent passes down a mutated copy of the BLM gene, even if they don't show signs or symptoms of the condition.
The cancers with the highest genetic contribution include breast, bowel, stomach and prostate cancers. Referral to a specialist cancer genetics service may be appropriate for people with a strong family history of cancer.
Bloom syndrome, also called Bloom-Torre-Machacek syndrome or congenital telangiectatic erythema, is a rare autosomal recessive inherited disorder characterized by genomic instability and predisposition to the development of all types of cancer.
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.
Bloom syndrome (congenital telangiectatic erythema) is a rare autosomal recessive disorder. It was first described in 1954 by David Bloom in a series of patients with telangiectatic erythema on the face and dwarfism.
History of Bloom's Syndrome. In 1954, Dr. David Bloom, a New York City dermatologist, reported on 3 children with telangiectatic erythema and short stature [Bloom, 1954]. He suggested that this condition represented a unique human syndrome.
INTRODUCTION. In 1954, David Bloom, a dermatologist in New York City, reported the cases of three children with short stature and telangiectatic erythema, and noted that the cause was likely a genetic syndrome (Bloom 1954).
Bloom syndrome is a rare chromosomal breakage syndrome characterized by severe pre- and postnatal growth deficiency, a photosensitive facial erythema, immunodeficiency, mental retardation or learning disabilities, endocrinopathies, and a predisposition to develop a wide variety of cancers.
Fanconi anaemia (FA), ataxia telangiectasia (A-T), Nijmegen breakage syndrome (NBS) and Bloom syndrome (BS) are clinically distinct, chromosome instability (or breakage) disorders.
Bloom syndrome (BS) is a rare, autosomal recessive genetic disorder characterized by short stature, a skin rash associated with sun exposure, and an elevated likelihood of developing cancers of essentially all types, beginning at an early age.
Bloom's syndrome is an autosomal recessive disorder characterized by prenatal and postnatal growth deficiency, photosensitive skin changes, immune deficiency, insulin resistance, and a greatly increased risk of early onset of cancer and for the development of multiple cancers.
Bloom syndrome (BSyn) overall prevalence is unknown, but in the Ashkenazi Jewish population it is estimated at approximately 1/ 48,000 births. A founder mutation, known as BLMash is present in approximately 1 in 100 persons of Ashkenazi Jewish background.
Researchers think Ashkenazi genetic diseases arise because of the common ancestry many Jews share. While people from any ethnic group can develop genetic diseases, Ashkenazi Jews are at higher risk for certain diseases because of specific gene mutations.
Average lifespan is 25 years with the most common cause of death being cancer1. Bloom syndrome is caused by loss of function mutations in the BLM gene (OMIM #604610), which encodes a 3′ to 5′ DNA helicase belonging to the evolutionarily conserved RecQ family2.
With appropriate medical care, most individuals with RSS will live full, productive lives. Growth and puberty: Almost all infants with RSS have a birth weight well below the 3rd percentile (<-2SD) even at full term. After birth, weight often continues to fall farther away from the normal range.
These are called genetic disorders, or inherited diseases. Since genes are passed from parent to child, any changes to the DNA within a gene are also passed. DNA changes may also happen spontaneously, showing up for the first time within the child of unaffected parents.
Prostate cancer is the most common cancer in Australia, apart from non-melanoma skin cancers. This year, around 24,000 Australians will be diagnosed with prostate cancer.