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 is the life expectancy of 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 is Bloom syndrome diagnosed and treated?
Bloom syndrome is diagnosed based on the symptoms, clinical exam, and confirmed by the results of genetic testing . Sometimes, cytogenetic testing, a blood test to look at a person’s chromosomes , is done to look for features characteristic of Bloom syndrome.
Can anyone get Blooms syndrome?
Bloom syndrome is a rare disorder . Only a few hundred affected individuals have been described in the medical literature, about one-third of whom are of Central and Eastern European (Ashkenazi) Jewish background.
Can Bloom syndrome be passed down?
Bloom syndrome is inherited in an autosomal recessive pattern . This means that there is a mutation of both copies of the BLM gene in people with Bloom syndrome; and each parent carries one mutant copy and one normal copy. The causative gene has been mapped to chromosomal location 15q26.
Is Bloom syndrome more common in males or females?
Bloom syndrome is more common in eastern European Ashkenazi Jews. At least 1 in 100 Ashkenazi Jews is a carrier of the disease. It appears to be slightly more common in males than females .
What is Bloom’s syndrome?
Listen to pronunciation. (... SIN-drome) 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.
What is Feingold syndrome?
Definition. Feingold syndrome (FS), also known as oculo-digito-esophageal-duodenal (ODED) syndrome, is a rare inherited malformation syndrome characterized by microcephaly , short stature and numerous digital anomalies and is comprised of two subtypes: FS type 1 (FS1) and FS type 2 (FS2) (see these terms).
Why do Ashkenazi have genetic diseases?
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.
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.
How many people have been diagnosed with Bloom syndrome?
The incidence of Bloom syndrome is unknown, and fewer than 300 affected individuals have been reported. Approximately one-third of people with the disease are of Ashkenazi Jewish descent, making it more common in this population than in others. Roughly 1 in 48,000 Ashkenazi Jews is affected by the disease.
Can you have an XXY chromosome?
Klinefelter syndrome is a genetic condition in which a boy is born with an extra X chromosome. Instead of the typical XY chromosomes in men, they have XXY, so this condition is sometimes called XXY syndrome.
How was Bloom syndrome discovered?
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.
What does Gaucher disease affect?
Gaucher disease can weaken bone, increasing the risk of painful fractures . It can also interfere with the blood supply to your bones, which can cause portions of the bone to die. Blood disorders. A decrease in healthy red blood cells (anemia) can result in severe fatigue.
What is Nijmegen breakage syndrome?
Description. Collapse Section. Nijmegen breakage syndrome is a condition characterized by short stature , an unusually small head size (microcephaly ), distinctive facial features, recurrent respiratory tract infections, an increased risk of cancer, intellectual disability, and other health problems.
How do you know if you have Li Fraumeni syndrome?
If health care providers or genetic counselors suspect a person has Li-Fraumeni syndrome, diagnostic testing may take place: A blood sample is collected . DNA is isolated from the cells in the sample, and the TP53 gene is checked for possible mutations using a variety of methods such as DNA sequencing.
