Bloom syndrome

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Bloom syndrome, also known as congenital telangiectatic erythema, is a rare genetic disorder that causes telangiectasia (permanent enlargement of blood vessels), photosensitivity, prenatal growth deficiency, varying degrees of immunodeficiency and increased susceptibility to many different types of cancer.
The syndrome is an inherited autosomal recessive disorder, which means both parents must carry the recessive gene in order for their child to be affected. If both parents are carriers, there is a 25% chance that the child will have the disorder, which appears within the first few months of life.
New York dermatologist David Bloom discovered the syndrome in 1954.
Since the syndrome was first recognized, there have been more than 170 case reports in the United States. While the disorder is extremely rare, it is most prevalent among individuals of Eastern European Ashkenazi ancestry. About one third of people with Bloom syndrome are of Ashkenazi Jewish descent, and the carrier rate for Ashkenazi Jews is about one percent. Cases of Bloom syndrome have also been reported in other countries, including Japan.

Related Terms

Ashkenazi, amniocentesis, autosomal recessive disorder, BLM, BLM protein, DNA, DNA analysis, chromatid, chromosomal instability, chromosome, chromosome breakage, chromosome breakage syndrome, cytogenetic abnormality, erythema, genetic disorder, genetic mutation, genetic test, genomic instability, growth deficiency, growth delay, immunoglobulin, mutagen, mutation, neoplasia, photosensitivity, prenatal growth deficiency, prenatal growth delay, recessive disorder, sister chromatids, sun sensitivity, telangiectatic erythema, tumors.