My son has Emanuel syndrome. He has had increased urination and after many tests an MRI showed 3 tumors on his spine. Is there a known link between spinal tumors and Emanuel syndrome? If so, are these tumors usually benign?
We are not aware of an association between Emanuel syndrome and spinal tumors. To our knowledge, Emanuel syndrome has not been linked specifically to the development of tumors anywhere in the body.
Female carriers of a balanced translocation involving chromosomes 11 and 22, who are at risk for having a child with Emanuel syndrome, may be at increased risk for premenopausal breast cancer. However, this possible association needs further study. Larger studies are also needed to investigate a potential link between this balanced translocation and an increased risk for esophageal cancer, melanoma, and/or renal cell carcinoma. Because of these findings, increased vigilance with respect to sun protection, investigation of skin lesions in balanced translocation carriers, and close attention to possible cancer symptoms as per the general population have been suggested.
Last updated: 6/28/2016
We hope this information is helpful. We strongly recommend you discuss this information with your doctor. If you still have questions, please