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Bloom syndrome is a rare genetic condition causing growth changes, skin rash and infections. People with Bloom syndrome are extremely sensitive to sunlight and are at higher risk of developing many cancers. Healthcare providers use antibiotics and regular cancer screenings to help keep people with Bloom syndrome as healthy as possible.
Feb 27, 2024 · 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 susceptibility to many types o...
Bloom syndrome is caused by genetic variants in the BLM gene and is inherited in an autosomal recessive pattern. Diagnosis is based on the symptoms, a clinical examination, and confirmed by the results of genetic testing. Summary. Bloom syndrome affects many different body systems and is characterized by slow growth, sun sensitivity, and an ...
Feb 8, 2024 · Bloom syndrome is a rare genetic condition that can occur in any population but is more common in people of Ashkenazi Jewish ancestry. Symptoms include short stature, extreme sun sensitivity, and increased cancer risk. Treatment aims at reducing symptoms and health risks. There is currently no cure.
- Cristina Mutchler
Bloom syndrome is an inherited disorder with short stature, skin rash, and increased cancer risk. It affects people who are usually smaller than 97 percent of the population and have a high-pitched voice, a long face, and learning disabilities. Learn more about its causes, symptoms, diagnosis, and treatment.
Bloom syndrome (often abbreviated as BS in literature) [1] 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.
Jul 3, 2023 · 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. Bloom syndrome is due to mutations in the BLM gene.
