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.
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.
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.
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.
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.
There are fewer than 200 known surviving cases of Bloom syndrome worldwide. Lifespan is limited; the average age of death is 27 years.
Bloom syndrome is rare in all populations but is most common among people of Ashkenazi (Eastern European) Jewish descent.
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.
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.
Prenatal diagnosis of Bloom syndrome is possible with amniocentesis for amniotic fluid cell culture to assess for a high number of sister chromatid exchanges; DNA analysis will be available in the near future.
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.
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.
Examples of inherited cancer syndromes are hereditary breast and ovarian cancer syndrome, Li-Fraumeni syndrome, Cowden syndrome, and Lynch syndrome. Also called family cancer syndrome and hereditary cancer syndrome.
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.
Cells from a person with Bloom syndrome exhibit a striking genomic instability that includes excessive crossovers between homologous chromosomes and sister chromatid exchanges (SCEs). The condition was discovered and first described by New York dermatologist Dr. David Bloom in 1954.
Once the chocolate is warm, the cocoa butter in the chocolate softens and separates from other ingredients in the chocolate. Once it rises to the surface and re-solidifies, it creates the bloom.
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.
Fanconi anaemia (FA), ataxia telangiectasia (A-T), Nijmegen breakage syndrome (NBS) and Bloom syndrome (BS) are clinically distinct, chromosome instability (or breakage) disorders.
In pedigrees of families with multiple affected generations, autosomal recessive single-gene diseases often show a clear pattern in which the disease "skips" one or more generations. Phenylketonuria (PKU) is a prominent example of a single-gene disease with an autosomal recessive inheritance pattern.
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).
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.
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.
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.
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.
Huntington's disease is a condition that stops parts of the brain working properly over time. It's passed on (inherited) from a person's parents. It gets gradually worse over time and is usually fatal after a period of up to 20 years.