Definition

A genetic condition that occurs in females who have a missing or abnormal X chromosome (sex chromosome). Turner syndrome is marked by a shorter-than-average height, ovaries that do not function normally, and infertility. Other signs and symptoms may include extra folds of skin on the neck, a low hairline at the back of the neck, swelling of the hands and feet, and heart, kidney, bone, and hearing problems. Turner syndrome is present at birth but its signs and symptoms may occur slowly over time. Having Turner syndrome increases the risk of germ cell tumors in the ovaries.