It is a rare autosomal recessive disorder characterized by short stature, predisposition to the development of cancer and genomic instability. The symptoms are:
1. Short stature and a rash on the face that develops early in life when exposed to the sun
2. The rash will develop on any other sun exposed areas including the backs of hands and neck
3. High pitched voice
4. Distinct facial features including a long narrow face and prominent nose and ears
5. Pigmentation changes in the skin
HOW IS BLOOM SYNDROME DIAGNOSED?
Blooms syndrome can be diagnosed by any one of these genetic tests:
• Testing cultured lymphocytes for presence of quadriradial
• Testing cells for presence of sister chromatoid exchange
• Mutation of BLM gene
HOW IS BLOOM SYNDROME TREATED?
Bloom syndrome does not have any specific treatment. Some symptoms like skin rashes can be avoided by restricting exposure to sun and using sunscreens. In case of malignancies that arise due to Bloom syndrome, surgical oncological treatments may be performed. Paediatricians may be consulted for addressing stunted growth due to Blood Syndrome.
DID YOU KNOW?
Men with Bloom syndrome are usually unable to produce sperm.