Bloom syndrome

Disease Overview

Bloom syndrome affects many different body systems and is characterized by slow growth, sun sensitivity, and an increased risk of cancer. Symptoms include short stature, sun-sensitive skin rash, and an immune system that doesn’t work correctly. Some people with Bloom syndrome have learning disabilities, type 2 diabetes, and chronic obstructive pulmonary disease (COPD). Most people with Bloom syndrome develop some type of cancer by age 40. Bloom syndrome is caused by genetic variants in the BLM gene and is inherited in an autosomal recessive pattern. Diagnosis is based on the symptoms, a clinical examination, and confirmed by the results of genetic testing. Treatment is focused on managing the symptoms.[4222][15809][15810]

Synonyms

• BS
• Bloom-Torre-Machacek syndrome
• BLM
• Growth deficiency, sun-sensitive, telangiectatic, hypo and hyperpigmented skin, predisposition to malignancy and chromosomal instability
• BLS
• Congenital Telangiectatic Erythema