Nijmegen breakage syndrome

Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections.

Recurrent sinopulmonary infections

An increased susceptibility to infections involving both the paranasal sinuses and the lungs, as manifested by a history of recurrent sinopulmonary infections.


Total: 1

                       


(per page)
PMID (PMCID)
20353920
 FEMALE Child
[Nijmegen Breakage syndrome].
Erdos M, Toth B, Juhasz P, Mahdi M, Marodi L.
Orv Hetil. 2010;151(16):665-73.
Nijmegen Breakage syndrome is a rare, autosomal recessive disorder characterized by severe, combined immunodeficiency, recurrent sinopulmonary infections, chromosomal instability, radiosensitivity, predisposition to malignancy, a "bird-like" facial appearance, progressive microcephaly, short stature, and mental retardation.