Neurocutaneous syndromes are conditions that affect a person’s skin and nervous systems. They are present from birth. These disorders are incurable, but treatments are available to help manage ...

Sanfilippo syndrome, also known as mucopolysaccharidosis type III, is a rare life-threatening disorder that interferes with metabolism. While it doesn’t have a cure, some symptoms can be treated to ...

Hepatorenal syndrome is when the kidneys stop working properly due to liver failure. It is a life threatening condition. In most cases, a person will not survive without a liver transplant. There are ...

Causalgia is technically known as complex regional pain syndrome type II (CRPS II). It’s a neurological disorder that can produce long lasting, intense pain. Causalgia (CRPS II) arises after an injury ...

Long QT syndrome is a leading cause of sudden death in young persons, with a prevalence exceeding 1 in 2000. It is characterized by prolongation of the QT interval, aberrant T-wave morphologic ...

Bartter syndrome refers to a set of rare genetic disorders characterized by distinct kidney function abnormalities. These flaws impede the kidney's ability to reabsorb salt, resulting in electrolyte ...

Diabetes affects every part of the body, causing symptoms like fatigue, weight gain, mood changes, and neuropathic pain, among others. These symptoms are not unique to diabetes: They are also common ...

Lissencephaly (agyria) refers to a rare genetic condition that leads to brain changes during fetal development. An infant's brain lacks folds and is smoother than typical, and the head is often ...

Sanfilippo syndrome, also called mucopolysaccharidosis (MPS) type III, is a genetically inherited metabolic disorder that causes nervous system issues and other symptoms in children. This syndrome is ...