Chromosome instability syndrome is a genetic disorder characterized by the presence of irregularities or abnormalities in the chromosomes of an individual. There are several synonyms for this condition, including chromosome breakage syndrome, chromosomal fragility syndrome, and chromosome aberration syndrome. People with this condition may exhibit various symptoms, including developmental delays, intellectual disability, facial abnormalities, and short stature. Specific types of chromosome instability syndromes may have additional symptoms or features, such as immune deficiencies or an increased risk of cancer. Diagnosis typically involves genetic testing and evaluation by a medical professional. Treatment may involve management of symptoms and monitoring for potential complications.