Bloom syndrome

Also known as: Bloom-Torre-Machacek syndrome; Congenital Telangiectatic Erythema

Overview

Bloom syndrome is a rare genetic condition that causes short stature, sensitive skin and an increased risk of cancer. Typically those affected have a narrow face and redness of the skin of the face, which is aggravated by sunlight. Respiratory tract and ear infections are common, sometimes related to gastro-oesophageal reflux (acid and stomach contents flowing back into the gullet). Men and women experience reduced fertility and also have an increased risk of malignant tumours, which invade other parts of the body. There is also an increased risk of diabetes mellitus. Bloom syndrome is caused by faults in the BLM gene on chromosome 15. A diagnosis can be made by a chromosome test to look at the chromosome. Management of the condition involves regular monitoring to identify any cancers for treatment. X-rays and other environmental exposure to substances that cause DNA damage should be avoided. Prompt treatment of infections with antibiotics is important as is treatment for reflux, which may help to prevent some of the infections. The condition is inherited in an autosomal recessive manner. Affected families should be referred to a genetics centre for information and support.

This overview is intended to be a basic description of the condition. It is not intended to replace specialist medical advice. We advise that you discuss your child’s case with a qualified medical professional who will be able to give you more detailed information.

Credits

Medical text approved January 2013 by Dr Jenny Fisken (retired), formerly Associate Specialist in Community Paediatrics, North Yorkshire and York PCT.

Is there support?

There is no support group for Bloom syndrome in the UK. Families can use Contact’s freephone helpline for advice and information. You can also meet families online in our closed Facebook group