Bloom-Torre-Machacek syndrome
Meaning of Bloom-Torre-Machacek syndrome: Bloom-Torre-Machacek syndrome is the full clinical name for Bloom syndrome, a rare inherited disorder marked by short stature and elevated cancer risk.
Definition of Bloom-Torre-Machacek syndrome
Bloom-Torre-Machacek syndrome is a rare, inherited disorder more commonly known as Bloom syndrome, named for physicians who contributed to its early description. It is marked by growth notably below average height, a narrow face with a sun sensitive rash, and a substantially increased lifetime risk of cancer.
The condition results from mutations affecting a gene responsible for a protein that helps cells accurately copy and repair their DNA. When this repair process does not function properly, cells accumulate an unusually high number of DNA breaks and rearrangements as they divide.
This underlying DNA repair problem affects tissues throughout the body, which is why Bloom-Torre-Machacek syndrome carries an increased risk of several different cancers, including leukemia and osteosarcoma, rather than a single specific cancer type, and affected individuals are generally followed with ongoing cancer surveillance.
Also known as
Used in a sentence
The genetics clinic used the full name Bloom-Torre-Machacek syndrome in the child's diagnostic record.
Good to know
Bloom-Torre-Machacek syndrome is more commonly referred to simply as Bloom syndrome in current clinical use, though both names describe the identical inherited condition.