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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?
The diagnosis of this syndrome is established in a proband with identification of biallelic pathogenic variants in BLM on molecular genetic testing. If molecular genetic testing is inconclusive, it is diagnosed with identification of increased frequency of sister-chromatid exchanges (SCEs) on specialised cytogenetic studies. Molecular testing can include single-gene testing, use of a multi-gene panel, and more comprehensive genomic testing.
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?
These patients are also usually closely monitored and kept under observation to check the onset of cancer.