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?
While there is no cure for the disease, there is only scope to prevent and treat its various symptoms including pulmonary conditions and other infections.
DID YOU KNOW?
These patients are also usually closely monitored and kept under observation to check the onset of cancer.