Medical

Proteus Syndrome Definition: Proteus Syndrome is a rare genetic disorder, caused by mutant genes. The skin, bone and tissue disorder is asymmetric. The overgrowth is…

Schimmelpenning Syndrome Definition: Schimmelpenning syndrome (SS) is a neurocutaneous disorder, which was related to epidermal nevus syndromes and characterized by craniofacial nevus, neurologic anomalies, and…

Klippel–Trénaunay Syndrome (KTS) Definition: Klippel-Trenaunay syndrome (KTS) is a rare congenital vascular disorder in which a limb may be affected by port wine stains (red-purple…

Tuberous Sclerosis Definition: Tuberous sclerosis (TS), or tuberous sclerosis complex (TSC), is a rare genetic condition that causes noncancerous, or benign, tumors to grow in…

Megalencephaly Definition: Megalencephaly, also called macrencephaly, is a condition in which an infant or child has an abnormally large, heavy, and usually malfunctioning brain. While…

Lissencephaly Definition: Lissencephaly is a genetic disorder of the brain in which the brain does not develop the folds and grooves that is needed for…

Hydranencephaly Definition: Hydranencephaly is defined as the congenital absence of the cerebral hemispheres in which the space in the cranium that they normally occupy is…

Holoprosencephaly Definition: Holoprosencephaly (HPE) is the failure of the prosencephalon, or forebrain, to develop normally. The forebrain is formed and the face begins to develop…

Colpocephaly Definition: Colpocephaly is a congenital brain condition where underdeveloped white matter before birth results in abnormally large occipital horns (the rear portion of the…

Anencephaly Definition: Anencephaly, also known as “open skull,” is a birth defect in which the major parts of the brain, scalp, and skull of the…

Anaphylaxis Definition: Anaphylaxis (pronounced “an-a-fi-lax-is”) is a potentially severe or life-threatening allergic reaction that can occur very quickly—as fast as within a couple of minutes…

Egg Allergy Definition: Food allergies can have effects at several different sites in the body, including the mouth, throat, lungs, skin and gastrointestinal tract. Often…