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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?
A pediatrician diagnoses this by performing the following genetic tests:
1. The presence of quadriradial in cultured blood lymphocytes
2. Elevated levels of sister chromatid exchange in cells of any type
3. Mutation in the BLM gene
HOW IS BLOOM SYNDROME TREATED?
There is no cure for Bloom syndrome. Children with this syndrome need nutritional monitoring to ensure maximum growth. Experiments with growth hormones in bloom patients have been largely unsuccessful. People with the disease are advised to stay out of the sun and wear sunscreen, particularly during childhood, to prevent skin lesions. They should aslo make an effort to avoid infection of all kinds. In school, they may require special education classes due to learning difficulties.
DID YOU KNOW?
Men with Bloom syndrome are sterile, while women are reportedly less fertile and have a short reproductive span.