epiloia, dominant genetic trait associated with marked mental deficiency and multiple tumor formation.
an inherited autosomal dominant disorder of the skin and nervous system that is characterized typically by epilepsy and mental retardation, by a rash of the face resembling acne, and by multiple noncancerous tumors of the brain, kidney, retina, and heart.
A genetic disorder of the skin and nervous system characterized by epilepsy, mental retardation, and a skin condition resembling acne.
A hereditary disease marked by seizures, developmental delay, and deterioration of cognitive and social-adaptive skills.
A disease in which benign tumors affect the brain, eyes, skin, and internal organs; associated with mental retardation and seizures; inherited as an autosomal dominant trait.
Rare, multisystem genetic disease that causes benign tumors to grow in the brain and on other vital organs such as the kidneys, heart, eyes, lungs and skin. It commonly affects the central nervous system and results in a combination of symptoms, including seizures, developmental delay, behavioral problems, skin abnormalities and kidney disease. Also called tuberous sclerosis complex (TSC).
genetic disorder that causes benign tumors to form in many different organs, but primarily in the brain, eyes, heart, kidney, skin, and lungs
A genetic disorder characterized by abnormalities of the skin, brain, kidney, and heart. The skin abnormalities are present in all cases and may include tiny benign tumors (angiofibroma) on the face and depigmented areas anywhere on the body. The brain abnormalities are mainly benign cortical tumors ( tubers ) which cause seizures, developmental delay , and mental retardation . The kidneys often contain multiple cysts and benign tumors (angiomyolipomas). The heart problems include arrhythmias and benign heart muscle tumors (rhabdomyomas). See the entire definition of Tuberous sclerosis
A genetic disorder in which benign (noncancerous) tumors form in the kidneys, brain, eyes, heart, lungs, and skin. This disease can cause seizures, mental disabilities, and different types of skin lesions.
CaF directory of specific conditions and rare syndromes Tuberous (swellings or enlargements) sclerosis (the hardening of an organ or tissue) is a complex heterogeneous genetic disorder which may affect many of the body systems. Typical manifestations occur in the brain, skin, eye, kidney, bones, lungs and intestine.
an inherited disorder that includes seizures, mental retardation, a rash on the face that looks like acne, and benign tumors of the brain, eyes, heart, lungs, and kidneys.
A common genetic condition which produces abnormal growths in the body from birth throughout life. Results in the swelling and thickening of the layers of the wall of an organ or tissue.
Rare genetic neurological disorder characterized by seizures, mental retardation, and skin/ eye lesions. There my be tumors in the eyes, and visual functioning can vary depending on the size and severity of the tumors. There may be decreased visual acuity
An inherited genetic disorder that produces growths in the brain and peripheral nervous system and special skin blemishes.
Tuberous sclerosis (meaning "hard swellings") is a rare genetic disorder primarily characterized by a triad of seizures, mental retardation, and skin lesions (called facial angiofibroma). This "classic" Vogt triad is present in 30–50% of cases; in particular, up to 30% of those with tuberous sclerosis reportedly have normal mentation. Tuberous sclerosis, along with Neurofibromatosis type I, Neurofibromatosis type II (a.k.a.