Bloom syndrome is a rare autosomal recessive genetic disorder characterized by short stature, predisposition to the development of cancer, and genomic instability. BS is caused by mutations in the BLM gene which is a member of the RecQ DNA helicase family.
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 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.
There isn't a cure for Bloom syndrome — you or your child will always have it. Many people with Bloom syndrome live into adulthood.
Although it occurs in many ethnic groups, it is more prevalent in people of Ashkenazi Jewish heritage whose ancestors were from Poland or the Ukraine. Among Ashkenazi Jews in either New York City or Israel, the carrier frequency for Bloom syndrome is about 1 in 100.
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.
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.
If suspected clinically, the diagnosis of Bloom syndrome is confirmed by cytogenetic analysis showing increased numbers of sister chromatid exchanges or quadriradial configurations in lymphocytes or fibroblasts. The targeted mutational analysis may also be performed.
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.
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.
This condition is inherited in an autosomal recessive pattern , which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
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.
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.
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.
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 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.
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.
Fragile X syndrome (FXS) is the most common cause of inherited learning disability, but not all people with Fragile X syndrome have a learning disability.
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.
Fragile X syndrome is a genetic condition that causes a range of developmental problems including learning disabilities and cognitive impairment.
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.
Research shows that risk factors may be present from birth and tend to run in families. In fact, children who have a parent with a learning disability are more likely to develop a learning disability themselves.
No one really knows what causes a learning disability. Often, learning problems can run in families (genetic), but environmental factors can play a role too. Mostly, learning disabilities occur because there is an enormous range of variation that occurs normally in people's cognitive strengths and weaknesses.
The two most common genetic causes of intellectual disabilities are Down syndrome and Fragile X syndrome.