Genetic Disorders

Dwarfism is a condition characterized by short stature, typically defined as an adult height of 4 feet 10 inches or less. It can be caused by genetic factors or medical [...]

Batten disease is a rare group of nervous system disorders called neuronal ceroid lipofuscinosis (NCLs) or ceroid lipofuscinosis, neuronal (CLN). This genetic condition [...]

Have you ever felt your heart beat very fast or skip a beat? This sensation, known as palpitations, is usually harmless. However, in some cases, it could be a sign of a rare [...]

Lysosomal storage disorders are a group of more than 50 rare genetic diseases that affect the lysosome, a structure in your cells responsible for breaking down and recycling [...]

Huntington's disease (HD) is a hereditary disorder that causes nerve cells in the brain to break down over time. This leads to a gradual decline in physical and mental [...]

Hereditary transthyretin amyloidosis (hATTR) with polyneuropathy is a rare genetic disorder that affects multiple organs and nerves in the body. This condition is caused by a [...]

Cystic hygroma is a rare condition that affects approximately one in 8,000 babies. It occurs when the lymphatic system, which helps filter out harmful substances from the [...]

Chondrodysplasia is a term that encompasses several genetic conditions affecting bone growth and development. These conditions are often associated with dwarfism, which [...]

Hunter syndrome, also known as mucopolysaccharidosis II or MPS II, is a rare genetic disorder that primarily affects boys. It occurs when the body cannot break down certain [...]

Cystic fibrosis (CF) is a genetic disease that affects the lungs, pancreas, and other organs. If you or a loved one is suspected of having CF, doctors may use various tests [...]