This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
Ring chromosome 2 is a very rare chromosome abnormality in which the ends of chromosome 2 join together to form a ring shape. The severity and symptoms associated with ring chromosome 2 vary from person to person. Slow growth, short stature and a small head size are common features, but people with ring chromosome 2 may otherwise be generally healthy with no major birth defects. Signs and symptoms present in some people may include failure to thrive, developmental delay, low muscle tone (hypotonia), distinctive facial features, skeletal abnormalities, and/or other birth defects involving the heart, genitals, or other parts of the body. Ring chromosome 2 typically is not inherited and occurs sporadically, during the formation of egg or sperm cells or shortly after the egg and sperm join together. Treatment for ring chromosome 2 depends on the signs and symptoms present in each person.
For more information, visit GARD.