Bloom syndrome is an in rare and an inherited disorder characterized by short stature, a skin rash that develops after exposure to the sun, and a greatly increased risk of cancer. People with Bloom syndrome are usually smaller than 97 percent of the population in both height and weight from birth, and they rarely exceed 5 feet tall in adulthood.
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?
Bloom syndrome is also known as:
• Bloom-Torre-Mackacek syndrome
• dwarfism, Levi's type
• short stature and facial telangiectasis
• short stature, telangiectatic erythema of the face