Genetic Disorders

Bartter syndrome is a group of rare genetic conditions that affect the kidneys. If you have Bartter syndrome, your body loses too much salt and calcium when you urinate. This [...]

Epidermolysis bullosa (EB) is a rare genetic condition that causes the skin to be extremely fragile and prone to blistering at the slightest touch. Children born with this [...]

Hypoplastic left heart syndrome (HLHS) is a rare congenital heart defect that affects about 1,000 babies in the United States each year. In this condition, the left side of a [...]

Paroxysmal nocturnal hemoglobinuria (PNH) is a rare blood disease that occurs when your immune system attacks and breaks down your red blood cells. This condition can affect [...]

PIK3CA-Related Overgrowth Spectrum (PROS) is a group of rare syndromes that cause certain parts of the body to grow too much or develop an unusual shape. These conditions are [...]

Down syndrome is a genetic condition that causes mild to significant physical and developmental challenges. People with Down syndrome are born with an extra chromosome, [...]

Ewing sarcoma is a rare type of bone cancer that primarily affects children and young adults. This condition occurs when cancerous tumors grow in the bones or the soft [...]

Galactosemia is a rare metabolic disorder that affects newborns, preventing them from processing galactose, a sugar found in breast milk and formula. If left untreated, [...]

Tay-Sachs disease is a rare, fatal genetic disorder that primarily affects infants. Most commonly diagnosed around 6 months of age, this disease currently has no cure. [...]

Pompe disease, also known as GAA deficiency or type II glycogen storage disease (GSD), is a rare genetic disorder that affects the body's ability to break down a complex [...]