Conditions / Syndrome
Nijmegen breakage syndrome
info · Syndrome
A syndrome characterized by chromosomal instability, microcephaly, growth retardation, immunodeficiency, cellular hypersensitivity to X-rays, and predisposition to cancer that has_material_basis_in homozygous or compound heterozygous mutation in NBN on chromos
A syndrome characterized by chromosomal instability, microcephaly, growth retardation, immunodeficiency, cellular hypersensitivity to X-rays, and predisposition to cancer that has_material_basis_in homozygous or compound heterozygous mutation in NBN on chromosome 8q21.3.
Signs and symptoms
- Hypotonia
- Smooth philtrum
- Chromosome breakage
- Hypertelorism
- T-cell lymphoma
- Decreased total lymphocyte count
- Retrognathia
- Decreased circulating IgG concentration
- Downslanted palpebral fissures
- Microcephaly
Also known as: Berlin breakage syndrome; Microcephaly, normal intelligence and immunodeficiency; NBS; Seemanova syndrome II; Seemanova syndrome type 2