Nijmegen breakage syndrome
Nijmegen Breakage Syndrome (pronunciation: Nye-muh-gen Break-age Sin-drome) is a rare autosomal recessive congenital disorder characterized by microcephaly, growth retardation, immunodeficiency, and a predisposition to cancer. The syndrome is named after the city of Nijmegen in the Netherlands, where it was first described.
Etymology
The term "Nijmegen Breakage Syndrome" is derived from the city of Nijmegen in the Netherlands, where the syndrome was first identified and described. The term "breakage" refers to the characteristic chromosomal instability observed in individuals with this syndrome.
Symptoms and Signs
Individuals with Nijmegen Breakage Syndrome typically present with microcephaly (small head size), growth retardation, and distinctive facial features. They may also have recurrent infections due to an associated immunodeficiency, and are at an increased risk of developing malignancies, particularly leukemia and lymphoma.
Genetics
Nijmegen Breakage Syndrome is caused by mutations in the NBN gene, which provides instructions for making a protein that is involved in repairing damaged DNA. This condition is inherited in an autosomal recessive manner, which means both copies of the gene in each cell have mutations.
Diagnosis
Diagnosis of Nijmegen Breakage Syndrome is based on clinical features, laboratory findings of chromosomal instability, and molecular genetic testing of the NBN gene.
Treatment
There is currently no cure for Nijmegen Breakage Syndrome. Treatment is supportive and focuses on managing the symptoms and complications of the condition. This may include regular monitoring for cancer, treatment of infections, and supportive therapies for growth and developmental issues.
See Also
External links
- Medical encyclopedia article on Nijmegen breakage syndrome
- Wikipedia's article - Nijmegen breakage syndrome
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