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Nijmegen breakage syndrome

(NY-may-gen BRAY-kij SIN-drome)
A rare inherited disorder marked by a small head, height that is shorter than normal, unusual facial features, and other growth and developmental problems. People with Nijmegen breakage syndrome have a weakened immune system, which may cause them to have frequent sinus, lung, and other respiratory tract infections. They are also at an increased risk of developing certain types of cancer, especially non-Hodgkin lymphoma, rhabdomyosarcoma (a type of soft tissue tumor), and brain cancer. Nijmegen breakage syndrome is caused by a mutation (change) in a gene called NBN, which is involved in DNA repair. It is a type of DNA repair deficiency syndrome and a type of autosomal recessive genetic disease.
More Information
Drawing showing an autosomal recessive inheritance pattern between a father, mother, and their four children: an unaffected father (carrier) with a mutated gene and a normal gene on a chromosome pair; an unaffected mother (carrier) with a mutated gene and a normal gene; an unaffected daughter with two normal genes; an unaffected son (carrier) with a mutated gene and a normal gene; an unaffected daughter (carrier) with a mutated gene and a normal gene; and an affected son with two mutated genes.Enlarge this image in new window
Autosomal recessive inheritance is a way a genetic trait or condition can be passed down from parent to child. A genetic condition can occur when the child inherits one copy of a mutated (changed) gene from each parent. The parents of a child with an autosomal recessive condition usually do not have the condition. Unaffected parents are called carriers because they each carry one copy of the mutated gene and can pass it to their children.
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