Genetic Disorders

Hypotrichosis is a medical term used by dermatologists to describe a condition where an individual is born with little to no hair growth. Unlike alopecia, which refers to [...]

Alpha-1 Antitrypsin (AAT) Deficiency is a genetic condition that can lead to serious lung or liver disease. It occurs when your liver doesn't produce enough of the AAT [...]

TORCH syndrome is a group of infections that can pose serious risks to your unborn baby during pregnancy. The acronym TORCH stands for Toxoplasmosis, Other agents (including [...]

Trisomy 18, also known as Edwards Syndrome, is a rare chromosomal disorder that affects a baby's development. In this condition, a person has three copies of chromosome [...]

Langerhans Cell Histiocytosis (LCH) is a rare disorder that occurs when the body produces too many histiocytes, a type of immune cell. This overproduction can lead to the [...]

Fabry disease is a rare genetic disorder that runs in families. It occurs when your body cannot produce enough of an enzyme called alpha-galactosidase A, which is needed to [...]

Porphyria is a group of disorders that can affect your liver and nervous system, causing neurologic symptoms (Acute Intermittent Porphyria) or your skin, causing [...]

Inherited lipodystrophy is a rare genetic condition that affects the way the body uses and stores fat. People with this condition are born with it, as it is caused by genes [...]

Retinitis pigmentosa (RP) is a group of rare inherited eye disorders that can cause progressive vision loss. It affects the retina, the light-sensitive tissue at the back of [...]

Ehlers-Danlos Syndrome (EDS) is a group of inherited conditions that affect the body's connective tissues, which provide support and structure to skin, bones, blood [...]