Genetic Disorders

Creutzfeldt-Jakob Disease (CJD) is a very rare brain disorder that causes rapid mental decline and death. It is not related to mad cow disease or variant CJD, which are [...]

Treacher Collins Syndrome (TCS) is a rare genetic condition that affects the development of a baby's face. If your child has been diagnosed with TCS, you may have many [...]

Rabson-Mendenhall syndrome is a rare genetic condition that affects the body's ability to use insulin effectively. Insulin is a hormone that helps the body convert sugar [...]

Muscular dystrophy (MD) is a group of inherited diseases that cause progressive weakness in the muscles that control movement, known as voluntary muscles. In some forms of [...]

If your child has been diagnosed with Wolf-Hirschhorn syndrome, also known as 4p- syndrome, you may have many questions about what caused it and how it can be treated. This [...]

Spinal muscular atrophy (SMA) is a genetic disorder that primarily affects babies and children, causing muscle weakness and difficulty with movement. When a child has SMA, [...]

Autosomal Dominant Polycystic Kidney Disease (ADPKD) is a condition that causes numerous fluid-filled sacs, called cysts, to grow in your kidneys. These cysts can interfere [...]

Cystic fibrosis (CF) is a genetic disorder that affects multiple organs in the body, primarily the lungs and pancreas. People with CF inherit a mutated gene from both [...]

Mucopolysaccharidosis Type I, or MPS I, is a rare genetic disorder that affects children. It is caused by a deficiency in an enzyme called alpha-L iduronidase, which is [...]

Infantile spasms, also known as West syndrome, is a rare type of seizure disorder that affects babies. If your baby has been diagnosed with infantile spasms, it's [...]