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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…
Antiphospholipid syndrome (APS) is a rare autoimmune disorder that can cause blood clots to form in your blood vessels. This can lead to various…
Epidermolysis bullosa (EB) is a rare genetic condition that causes the skin to be extremely fragile and prone to blistering at the slightest touch.…
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…
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Get a free consultationParoxysmal nocturnal hemoglobinuria (PNH) is a rare blood disease that occurs when your immune system attacks and breaks down your red blood cells.…
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…
Down syndrome is a genetic condition that causes mild to significant physical and developmental challenges. People with Down syndrome are born with…
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…
Galactosemia is a rare metabolic disorder that affects newborns, preventing them from processing galactose, a sugar found in breast milk and formula.…
Tay-Sachs disease is a rare, fatal genetic disorder that primarily affects infants. Most commonly diagnosed around 6 months of age, this disease…
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…
Rett syndrome is a rare genetic disorder that primarily affects girls. It can impact a child's ability to speak, walk, eat, and breathe easily.…
Gaucher disease is a rare inherited condition that affects the body's ability to break down a certain type of fat. This leads to a buildup of fat in…
