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Genetic Disorders Program — Conditions We Treat

The following conditions are some of the most common conditions treated by specialists in this area. These specialists offer expert care for many other related medical problems. If you need care for a condition not listed here, please call (888) 352-RUSH (7874) to find a doctor who can help you.

  • Breast cancer is the most common cancer in women. It can develop in several locations, including the milk duct (the tube that carries milk to the nipple) and the milk lobule (where milk is produced).
  • Colorectal cancer develops in the colon or rectum, two sections of the large intestine. Most colorectal cancers begin as polyps, or small lumps, that slowly turn into cancer over time.
  • Down syndrome is a genetic condition that causes a number of physical and intellectual differences. Children born with Down syndrome have an extra chromosome 21 in all of the cells in their bodies, which changes how the body and brain develop.
  • Fragile X syndrome is a genetic disorder caused by a mutation on the X chromosome that affects brain development and function. It is the most common cause of inherited intellectual disability (mental retardation).
  • Galactosemia

    Galactosemia is an inherited condition in which a person’s body is unable to metabolize the simple sugar galactose. Galactose is part of the sugar lactose, which is found in dairy products and many baby formulas. If infants with galactosemia eat a diet with galactose, they may develop life-threatening complications, including liver and brain damage.
  • Mutations or problematic changes in your DNA can cause genetic disorders. Proper diagnosis, preventive measures and treatment can help manage symptoms and prevent complications.
  • Hemophilia is a rare hereditary condition that prevents the blood from clotting properly. People who have hemophilia usually bleed longer when they are injured, and they may develop internal bleeding, which can become life-threatening.
  • Infiltrative Cardiomyopathies

    Infiltrative cardiomyopathies are acquired and inherited diseases characterized by the deposition of abnormal biological substances within the heart that can lead to cardiac dysfunction, arrhythmias or heart failure. Cardiomyopathies can cause the heart muscle to become larger or more rigid, which can make it harder for the heart to pump blood properly and maintain a normal rhythm. These diseases can result in symptoms of heart failure (breathlessness, lower extremity swelling, exercise intolerance, fatigue), as well as symptoms related to electrical disturbances (lightheadedness, palpitations, syncope), such as ventricular/atrial arrhythmias.comes.
  • Ovarian cancer occurs when abnormal cells divide uncontrollably in a woman’s ovarian tissue.
  • Phelan-McDermid Syndrome

    Phelan-McDermid syndrome is a rare genetic disorder that affects development. Symptoms of this condition include developmental delays, delayed speech or inability to speak and low muscle tone. Many people with Phelan-McDermid syndrome have autism or autism spectrum disorders.
  • Phenylketonuria (PKU)

    Phenylketonuria (PKU) is a genetic disorder that increases the level of phenylalanine in the blood. Phenylalanine is a substance found in many foods, including all proteins, so people with PKU must stick to a special diet to keep their disease in check. Uncontrolled PKU can cause intellectual disability and many other problems.