Nijmegen breakage syndrome-like disorder

Nijmegen breakage syndrome-like disorder is a rare genetic condition that affects many parts of the body. It is marked by growth retardation, short stature, and developmental delays. People with this condition often have a distinct facial appearance including severe microcephaly (a very small head), a sloping forehead, prominent eyes, and a broad nasal ridge. There is also evidence of cellular hypersensitivity to ionizing radiation and spontaneous chromosomal instability, even though severe infections, immunodeficiency, and cancer predisposition are not common features. In addition to these features, additional findings can include mild spasticity, slight nonprogressive ataxia (coordination difficulties), hyperopia (farsightedness), multiple pigmented nevi (skin spots), widely spaced nipples, and clinodactyly (curved fingers). The condition is linked to genetic changes that affect the RAD50 gene, which plays a role in DNA repair.

Common symptoms and signs include growth retardation, short stature, developmental delay, and intellectual disability. Many people have characteristic craniofacial features such as severe microcephaly, a sloping forehead, prominent eyes, and a broad nasal ridge. Other symptoms can include cellular hypersensitivity to ionizing radiation, spontaneous chromosomal instability, mild spasticity, slight ataxia, hyperopia, multiple pigmented nevi, widely spaced nipples, and clinodactyly.

This condition is caused by genetic changes affecting the RAD50 gene. The changes disrupt normal DNA repair processes and lead to spontaneous chromosomal instability. This genetic cause impacts growth and development, leading to the clinical features observed in people with this condition.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.