Nijmegen Breakage Syndrome Questions & Answers

Updated: Aug 19, 2019
  • Author: Krystyna H Chrzanowska, MD, PhD; Chief Editor: William D James, MD  more...
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Questions & Answers

Overview

What is Nijmegen breakage syndrome (NBS)?

What is the pathophysiology of Nijmegen breakage syndrome (NBS)?

What causes Nijmegen breakage syndrome (NBS)?

What is the US prevalence of Nijmegen breakage syndrome (NBS)?

What is the global prevalence of Nijmegen breakage syndrome (NBS)?

What are the racial predilections of Nijmegen breakage syndrome (NBS)?

What are the sexual predilections of Nijmegen breakage syndrome (NBS)?

At what age do the symptoms of Nijmegen breakage syndrome (NBS)usually present?

What is the prognosis of Nijmegen breakage syndrome (NBS)?

What is the role of speech therapy and educational support in the treatment of Nijmegen breakage syndrome (NBS)?

Presentation

What is the focus of clinical history in the evaluation of Nijmegen breakage syndrome (NBS)?

Which physical findings are characteristic of Nijmegen breakage syndrome (NBS)?

How is microcephaly characterized in Nijmegen breakage syndrome (NBS)?

Which craniofacial characteristics are present in Nijmegen breakage syndrome (NBS)?

How does Nijmegen breakage syndrome (NBS) affect growth?

How does Nijmegen breakage syndrome (NBS) affect sexual maturation?

How does Nijmegen breakage syndrome (NBS) affect the immune system?

Which malignancies characteristic of Nijmegen breakage syndrome (NBS)?

Which cutaneous findings are characteristic of Nijmegen breakage syndrome (NBS)?

Which CNS findings are characteristic of Nijmegen breakage syndrome (NBS)?

Which skeletal findings are characteristic of Nijmegen breakage syndrome (NBS)?

Which urogenital findings are characteristic of Nijmegen breakage syndrome (NBS)?

Which developmental abnormalities are characteristic of Nijmegen breakage syndrome (NBS)?

What muscular joint findings have been reported in Nijmegen breakage syndrome (NBS)?

What are the possible complications of Nijmegen breakage syndrome (NBS)?

DDX

Which conditions are included in the differential diagnoses of Nijmegen breakage syndrome (NBS)?

What are the differential diagnoses for Nijmegen Breakage Syndrome?

Workup

Which tests should be administered when infection is suspected in patients with Nijmegen breakage syndrome (NBS)?

How is Nijmegen breakage syndrome (NBS) diagnosed?

What is the role of cytogenetic analysis in the workup of Nijmegen breakage syndrome (NBS)?

What is the role of immunologic testing in the workup of Nijmegen breakage syndrome (NBS)?

What is the role of serum alpha-fetoprotein measurement in the workup of Nijmegen breakage syndrome (NBS)?

What is the role of IR and RDS sensitivity analysis in the workup of Nijmegen breakage syndrome (NBS)?

What is the role of an immunoblotting assay in the workup of Nijmegen breakage syndrome (NBS)?

What is the role of molecular genetic analysis in the workup of Nijmegen breakage syndrome (NBS)?

What is the role of an endocrinologic evaluation in the workup of Nijmegen breakage syndrome (NBS)?

What is the role of imaging studies in the workup of Nijmegen breakage syndrome (NBS)?

Which histologic findings are characteristic of Nijmegen breakage syndrome (NBS)?

Treatment

How is Nijmegen breakage syndrome (NBS) treated?

What is the role of surgery in the treatment of Nijmegen breakage syndrome (NBS)?

Which specialist consultations are beneficial to patients with Nijmegen breakage syndrome (NBS)?

Which activity modifications are used in the treatment of Nijmegen breakage syndrome (NBS)?

How is Nijmegen breakage syndrome (NBS) diagnosed prenatally?

What is included in the long-term monitoring of Nijmegen breakage syndrome (NBS)?