Nijmegen Breakage Syndrome

Summarized by Plex Health
Last Updated: 03 May 2022

Nijmegen breakage syndrome is a problem identified by brief stature, uncommonly small head size, distinct facial features, recurrent respiratory tract infections, an increased risk of cancer, intellectual impairment, and other health issue. People with Nijmegen breakage syndrome have a defective body immune system with unusually low levels of body immune system proteins called immunoglobulin G and immunoglobulin A. Affected people have a scarcity of immune system cells called T cells. People with Nijmegen breakage syndrome have an increased risk of developing cancer, most commonly a cancer of body immune system cells called non-Hodgkin lymphoma. About half of individuals with Nijmegen breakage syndrome develop non-Hodgkin lymphoma, usually prior to age 15. Other cancers seen in people with Nijmegen breakage syndrome include brain tumors such as medulloblastoma and glioma, and a cancer of muscle tissue called rhabdomyosarcoma. People with Nijmegen breakage syndrome are 50 times more probable to develop cancer than people without this problem. Most women with Nijmegen breakage syndrome are incapable to have organic children.

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