Nijmegen breakage syndrome
ORPHA:647· ICD-10 Q87.8
Definition
A rare, genetic chromosomal instability syndrome presenting at birth with microcephaly, dysmorphic facial features which become more noticeable with age, growth delay, recurring sinopulmonary infections and extremely high frequency of malignancies.
- Prevalence
- Unknown
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Infancy, Neonatal