Nijmegen breakage syndrome
: A genetic disease named for the city of Nijmegen (in The Netherlands) with increased chromosome breakage, immunodeficiency and an increased risk of malignancy. Children with the syndrome appear abnormal with stunted growth before and after birth, small head, large ears, long nose, cleft lip or palate, small chin, and cafe au lait (coffee with milk) spots on the skin. Their intelligence seems to drop with age so mental retardation is evident by age 7 years. The increased chromosome breakage permits the formation of multiple rearrangements, especially of chromosome 7 and 14. The chromosomes are oversensitive to radiation and certain chemicals (alkylating agents). The immunodeficiency results in an increased tendency to infection of the ears, mastoids, sinuses, lungs, intestine and urinary tract. The increased risk of malignancy can cause lymphoma or tumors of the brain or muscle. The Nijmegen breakage syndrome gene (NBS1) codes for a protein that is activated by DNA damage and is directly involved in repairing broken strands of DNA. The disease is inherited as an autosomal recessive trait.

Medical dictionary. 2011.

Look at other dictionaries:

  • Nijmegen breakage syndrome — Classification and external resources OMIM 251260 DiseasesDB 32395 eMedicine …   Wikipedia

  • Nijmegen breakage syndrome — Syndrome de Nimègue Syndrome de Nimègue Autre nom Microcéphalie immunodéficience – lymphoréticulome Syndrome de Seemanova, type 2 Référence MIM …   Wikipédia en Français

  • Nijmegen breakage syndrome — Autosomal recessive chromosomal instability syndrome characterized by microencephaly, growth retardation, immunodeficiency, and predisposition to tumours. Cells from patients are hypersensitive to ionizing radiation in the same way as cells from… …   Dictionary of molecular biology

  • Nijmegen-Breakage-Syndrom — Das Nijmegen Breakage Syndrom (Abkürzung: NBS; englisch: Nijmegen breakage syndrome) ist eine syndromale, seltene, angeborene Krankheit des Menschen mit einer Störung des Reparaturmechanismus der Erbsubstanz (DNA) in allen Zellen und Organen mit… …   Deutsch Wikipedia

  • Syndrome de Nimegue — Syndrome de Nimègue Syndrome de Nimègue Autre nom Microcéphalie immunodéficience – lymphoréticulome Syndrome de Seemanova, type 2 Référence MIM …   Wikipédia en Français

  • Syndrome de nimègue — Autre nom Microcéphalie immunodéficience – lymphoréticulome Syndrome de Seemanova, type 2 Référence MIM …   Wikipédia en Français

  • Syndrome de Nimègue — Référence MIM 251260 Transmission Récessive Chromosome 8q21 Gène NBS1 Empreinte parentale Non …   Wikipédia en Français

  • Syndrome de Silver-Russel — Référence MIM 180860 Transmission Voir l article Chromosome 11 11p15 Empreinte parentale oui Mutation Voir l article …   Wikipédia en Français

  • Syndrome de Silver Russel — Autre nom Syndrome de Russel Silver Référence MIM …   Wikipédia en Français

  • Syndrome de silver-russel — Autre nom Syndrome de Russel Silver Référence MIM …   Wikipédia en Français

Share the article and excerpts

Direct link
Do a right-click on the link above
and select “Copy Link”