Bloom syndrome (BLM)

What is Bloom syndrome (BLM)?

Bloom syndrome is a very rare genetic disorder characterized by unique facial features.

Other defining features of the syndrome include abnormal growth , a sensitivity to the sun with telangiectasias (dilated small blood vessels on the skin), pigmentation abnormalities and a predisposition to skin malignancy.

Over ⅓ of the known cases involve individuals of Ashkenazi Jewish descent.

What gene changes cause Bloom syndrome (BLM)?

The syndrome is caused by mutations to the gene RECQL3.

It is an autosomal recessive disorder. Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms, but have a 25% chance of passing the copies of the gene mutations onto each of their children.

What are the main symptoms of Bloom syndrome (BLM)?

Individuals with the syndrome experience sensitivity to the sun. This often leads to a permanent, butterfly shaped patch of reddened skin across the nose and cheeks.
Hyperpigmentation or hypopigmentation may also appear on other parts of the body, including those not exposed to the sun.

Facial and physical characteristics include a long and narrow face, small lower jaw and prominent nose and ears. Individuals with the syndrome usually have a high-pitched voice and a very short stature.

Other health conditions include increased risk for diabetes and COPD, as well as much higher incidences of cancer. Individuals with the syndrome may suffer from more than one type of cancer in the course of their lifetime.

Male sufferers of the syndrome are infertile, and women experience reduced fertility and early menopause.

How does someone get tested for Bloom syndrome (BLM)?

The initial testing for Bloom syndrome can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow. 

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.   

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