Genetic Disorders

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 [...]

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. Parents or doctors [...]

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 various organs, [...]

Homozygous familial hypercholesterolemia is a genetic disorder that affects the body's ability to remove LDL "bad" cholesterol from the blood. This condition [...]

Homocystinuria (HCY) is a rare genetic condition that affects the body's ability to break down methionine, an amino acid found in protein. When left untreated, this [...]

Leukodystrophy is a term that encompasses a group of rare genetic disorders affecting the central nervous system. These disorders cause abnormal development or destruction of [...]

Chordoma is a rare type of bone cancer that develops in the bones of the skull and spine. With only about 300 cases diagnosed in the United States each year, it affects [...]

West syndrome is a rare type of epilepsy that affects babies, usually between 4 and 8 months of age. It is named after the doctor who first discovered it and is also known by [...]

As a new parent, you want the best for your baby. While your newborn may appear perfect, it's essential to be aware of potential health issues that may not be visible to [...]

Brittle bone disease, also known as osteogenesis imperfecta, is a genetic disorder that affects the strength and durability of bones. People with this condition have bones [...]