Bloom syndrome is caused by a mutation (change) in the BLM gene that causes cells to have abnormal breaks in the chromosomes. Also called Bloom-Torre-Machacek syndrome.
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. They should also make an effort to avoid infection of all kinds.
Bloom syndrome is rare in all populations but is most common among people of Ashkenazi (Eastern European) Jewish descent.
Bloom syndrome (BSyn) is a rare genetic disorder characterized by short stature; a sun-sensitive, red rash that occurs primarily over the nose and cheeks; mild immune deficiency with increased susceptibility to infections; insulin resistance that resembles type 2 diabetes; and most importantly, a markedly increased ...
About Bloom syndrome
Symptoms:May start to appear during Pregnancy and as a Newborn. Cause:This condition has more than one possible cause. Organizations:Patient organizations are available to help find a specialist, or advocacy and support for this specific disease.
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.
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.
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 a rare genetic disorder characterized by impaired growth and an increased risk of infections and cancer. A person must have two variants in the BLM gene, or two copies of a variant, in order to have this condition. People with just one variant in the BLM gene are called carriers.
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.
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 (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 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.
Testing for Bloom syndrome may include sister chromatid exchange, known familial mutation analysis, targeted mutation analysis, sequence analysis, or deletion/duplication analysis. Once a deleterious mutation has been identified in an affected person, relatives and at- risk pregnancies can be tested.
Fanconi anaemia (FA), ataxia telangiectasia (A-T), Nijmegen breakage syndrome (NBS) and Bloom syndrome (BS) are clinically distinct, chromosome instability (or breakage) disorders.
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.
Bloom syndrome has been diagnosed in a variety of ethnic and racial groups, but occurs more commonly in persons of Eastern European descent – particularly within the Ashkenanzi Jewish population, with an increased carrier rate of approximately 1-in-100.
Bloom syndrome is a genetic disorder characterized by short, but proportional, stature; hypersensitivity to sunlight, including a mnemonic facial butterfly rash; and a predisposition to leukemia, lymphoma and Wilms tumor during childhood.
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.
As a result, 1% of all Ashkenazi Jews living today inherited a defective copy of one of their BRCA2 genes. Unbeknownst to them, these carriers of the BRCA2 mutation are at increased risk for developing breast, ovarian, prostate and pancreatic cancer.
Small clusters of enlarged blood vessels may appear in the rash and in the eyes. Other signs and symptoms include patches of skin that may be lighter or darker than the skin around them, a small jaw and large ears, a high-pitched voice, fertility problems, learning problems, and other growth and developmental problems.
Individuals of Ashkenazi Jewish descent may carry pathogenic variants for Bloom syndrome, Canavan disease, cystic fibrosis, familial dysautonomia, familial hyperinsulinism, Fanconi anemia C, Gaucher disease, glycogen storage disease type 1A, Joubert syndrome type 2, maple syrup urine disease type 1B, mucolipidosis IV, ...
Expression of Bloom syndrome is not an all or nothing event. Environmental agents like UV light would affect people with light skin more than people with darker skin due to the amount of melanin present. This syndrome is most common in the Ashkenazi Jews (1 in 110).
Environmental factors are any external factors that affects gene expression. The environmental factors that can affect these genes include drugs, chemicals, diet, temperature, oxygen levels, humidity, light cycles, and the presence of mutagens.
German syndrome is characterized by arthrogryposis, hypotonia-hypokinesia sequence, and lymphedema. Patients present distinct craniofacial appearance (tall forehead and carp shaped mouth, cleft palate), contractures, and severe hypotonia manifesting as motor delay and swallowing difficulties.