Genetic Disorders

Pfeiffer syndrome is a rare genetic disorder that affects the development of a baby's skull and face. This condition causes the skull bones to fuse too early, preventing [...]

Trisomy 13, also known as Patau syndrome, is a rare genetic condition that occurs when a baby has an extra 13th chromosome. This extra genetic material disrupts the [...]

Rapp-Hodgkin syndrome is a rare genetic disorder that affects various parts of the body, including hair, nails, skin, sweat glands, and teeth. It is part of a larger group of [...]

Klinefelter syndrome is a genetic condition that affects males who are born with an extra X chromosome. Instead of the typical XY chromosome pattern, men with Klinefelter [...]

If you or your child has been diagnosed with a germ cell tumor, it's essential to understand what this means and what steps to take next. Germ cell tumors are growths [...]

Sickle cell disease (SCD) is a genetic disorder that affects the shape and flexibility of red blood cells. When these cells become hard and curved, like a sickle, they can [...]

Hereditary angioedema (HAE) is a rare genetic condition that causes swelling under the skin and lining of the gut and lungs. If you or a loved one has been diagnosed with [...]

Diamond-Blackfan Anemia (DBA) is a rare blood disorder that affects the body's ability to produce red blood cells. Red blood cells are essential for carrying oxygen [...]

About 15% of women with breast cancer have a family history of the disease. Having a close relative, such as a mother, sister, or daughter, with breast cancer doubles your [...]

Antiphospholipid syndrome (APS) is a rare autoimmune disorder that can cause blood clots to form in your blood vessels. This can lead to various health problems, including [...]