Kategori: Diseases & Conditions

Dysthymia

Synonyms of Dysthymia Depression, Mild Depressive Neurosis Disorder Subdivisions General DiscussionDysthymia is a common psychological disorder characterized by a chronic but mild depressive state that has been present in an individual for more than two years. When the depressive state has lasted for several years, it may be difficult to distinguish between a person’s usual […]

Ellis Van Creveld Syndrome

Synonyms of Ellis Van Creveld Syndrome Chondroectodermal Dysplasia Mesoectodermal Dysplasia Disorder Subdivisions General DiscussionEllis-Van Creveld Syndrome is a rare genetic disorder characterized by short limb dwarfism, additional fingers and/or toes (polydactyly), abnormal development of fingernails and, in over half of the cases, congenital heart defects. This disorder is inherited through an autosomal recessive trait. Organizations […]

Epidermal Nevus Syndrome

Synonyms of Epidermal Nevus Syndrome Ichthyosis Hystrix Gravior Inflammatory Linear Nevus Sebaceous Syndrome Lambert Type Ichthyosis Linear Nevus Sebacous Syndrome Linear Sebaceous Nevus Sequence Linear Sebaceous Nevus Syndrome Nevus Sebaceous of Jadassohn Porcupine Man Sebaceous Nevus Syndrome Disorder Subdivisions General DiscussionEpidermal Nevus Syndrome is a rare disorder characterized by distinctive birth marks (nevus) on the […]

Erythropoietic Protoporphyria

Synonyms of Erythropoietic Protoporphyria EPP Erythrohepatic Protoporphyria Protoporphyria Disorder Subdivisions General DiscussionErythropoietic protoporphyria (EPP) is a rare inherited metabolic disorder characterized by a deficiency of the enzyme ferrochelatase (FECH). Due to abnormally low levels of this enzyme, excessive amounts of protoporphyrin accumulate in the bone marrow, blood plasma, and red blood cells. The major symptom […]

Familial Lipoprotein Lipase Deficiency

Synonyms of Familial Lipoprotein Lipase Deficiency chylomicronemia, familial hyperchylomicronemia, familial hyperlipemia, essential familial hyperlipemia, idiopathic, Burger-Grutz type hyperlipoproteinemia, type 1A lipase D deficiency LIPD deficiency lipoprotein lipase deficiency lipoprotein lipase, included; LPL, included LPL deficiency Disorder Subdivisions General DiscussionFamilial lipoprotein lipase deficiency is a rare hereditary enzyme deficiency that results in abnormal breakdown of fats […]

Fibrodysplasia Ossificans Progressiva (FOP)

Synonyms of Fibrodysplasia Ossificans Progressiva (FOP) FOP Myositis Ossificans Progressiva Disorder Subdivisions General DiscussionFibrodysplasia ossificans progressiva (FOP) is a very rare inherited connective tissue disorder characterized by the abnormal development of bone in areas of the body where bone is not normally present (heterotopic ossification), such as the ligaments, tendons, and muscles. Specifically, this disorder […]

Fryns Syndrome

Synonyms of Fryns Syndrome FRNS Disorder Subdivisions General DiscussionFryns syndrome is an extremely rare inherited disorder characterized by multiple abnormalities that are present at birth (congenital). Characteristic symptoms and physical findings include protrusion of part of the stomach and/or small intestines into the chest cavity (diaphragmatic hernia), abnormalities of the head and face area (craniofacial […]

Gastroparesis

Synonyms of Gastroparesis delayed gastric emptying gastric atony gastric dysmotility gastric stasis gastrointestinal autonomic neuropathy gastroparesis diabeticorum gastropathy severe functional dyspepsia Disorder Subdivisions diabetic gastroparesis idiopathic gastroparesis post-surgical gastroparesis General DiscussionGastroparesis (abbreviated as GP) represents a clinical syndrome characterized by sluggish emptying of solid food (and more rarely, liquid nutrients) from the stomach, which causes […]

Glutaricaciduria I

Synonyms of Glutaricaciduria I Dicarboxylic Aminoaciduria GA I Glutaricacidemia I Glutaric Acidemia I Glutaric Aciduria I Glutaryl-CoA Dehydrogenase Deficiency Glutaurate-Aspartate Transport Defect Disorder Subdivisions General DiscussionGlutaricaciduria I (GA-I) is a rare hereditary metabolic disorder, caused by a deficiency of the enzyme glutaryl-CoA dehydrogenase. One of a group of disorders known as organic acidemias, it is […]