Bloom syndrome

Meaning of Bloom syndrome: Bloom syndrome is a rare inherited disorder causing short stature and a sun sensitive facial rash, with a markedly increased cancer risk.

Definition of Bloom syndrome

Bloom syndrome is a rare, inherited disorder marked by growth that is notably shorter than average, a narrow face, and a sun sensitive skin rash affecting the face, along with an increased risk of many types of cancer over a person's lifetime.

Bloom syndrome is caused by mutations in a gene that normally produces a protein cells use to accurately copy and repair their DNA during cell division. Without this protein working properly, DNA develops many more breaks, rearrangements, and other errors than usual as cells divide.

Because this DNA repair defect affects cells throughout the body, people with Bloom syndrome face a substantially increased risk of developing several types of cancer, including leukemia and a bone cancer called osteosarcoma, generally at a younger age than would otherwise be expected, making ongoing cancer screening an important part of long term care.