Bloom syndrome


An inherited condition caused by mutations in a certain chromosome. Signs include shorter than average height, a high-pitched voice and a characteristic facial appearance.

Bloom syndrome is associated with an increased risk of cancer, including leukemia, lymphoma, breast, cervical, colon, stomach, laryngeal and non-melanoma skin cancers as well as Wilms tumour. People with Bloom syndrome often develop several different types of cancers.

Also called Bloom-Torre-Machacek syndrome or congenital telangiectatic erythema.