Mindblown: a blog about philosophy.
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Goldenhar syndrome
Because Goldenhar syndrome includes a wide spectrum of physical features and symptoms, a number of names have arisen. Other names for this syndrome include Goldenhar Gorlin syndrome, the oculoauriculovertebral (OAV) spectrum, ocular-auriculo-vertebral anomaly, first and second branchial arch syndrome, facio-auriculo-vertebral (FAV) spectrum, and oculo-auriculo-vertebral dysplasia. This is a rare, congenital form of dysplasia (abnormal growth)…
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Glycogen storage disease Type VIII
Glycogen storage disease Type VIII is a rare genetic metabolic disorder characterized by an accumulation of glycogen in the central nervous system and can result in substantial abnormalities and dysfunction of the central nervous system. Glycogen storage disease Type VIII affects the X chromosome and results in a deficiency of a liver enzyme called phosphorylase…
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Andersen disease
Andersen disease is one of the glycogen storage diseases and is characterized by cirrhosis and liver failure. Individuals with glycogen storage diseases are unable to break glycogen down to glucose, thus causing abnormal accumulation of glycogen in the liver or muscle. Storing excess amounts of glycogen results in muscle weakness and an enlarged liver. Individuals…
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Forbes disease
Forbes disease is a glycogen storage disorder referred to as glycogen storage disease Type III. The disorder usually begins in infancy. Individuals with Forbes disease lack the hepatic debrancher enzyme amylo-l,6-glucosidase, which results in abnormal glycogen accumulation in the liver, muscles, and in some cases the heart. They can not convert glycogen to glucose, so…
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Childhood glauoma
Glaucoma is a disease characterized by abnormally high intraocular pressure caused by blockage or disturbance of normal fluid circulation within the eye. Glaucoma occurring in the first 3 years is commonly termed infantile glaucoma, and onset after the age of 3 is often referred to as juvenile glaucoma. The term congenital glaucoma suggests that the…
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Eosinophilic gastroenteritis
Eosinophilic gastroenteritis (EG) is composed of a group of uncommon and enigmatic disorders that affect the stomach and small intestine. Involvement of the esophagus and large intestine is occasionally seen. The salient feature of this disease is infiltration of areas of the gut with eosinophils, a type of white blood cell produced in bone marrow.…
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Giant hypertrophic gastritis
Giant hypertrophic gastritis is a chronic disorder that affects the stomach. This disorder results in the formation of ridges and folds in the inner walls of the stomach and can cause inflammation of the stomach (National Organization for Rare Disorders [NORD], 2001), and reduced acid secretion in the stomach (Griffith’s Five-Minute Clinical Consult: A Reference…
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Gardner syndrome
Gardner syndrome is a rare, inherited disorder of the gastrointestinal system and is a variant of familial adenomatous polyposis. The syndrome consists of a triad of symptoms, including colonic polyps, bone tumors, and soft tissue tumors or cysts. Often, the first symptoms to appear in childhood include osteomas of the skull and supernumerary growth of…
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Gait disturbances
Gait disturbances are characterized by the loss of or difficulty with the ability to coordinate smooth motor movements related to gait, or locomotion. Gait disturbance can vary in severity from an almost unobservable difficulty in walking to an almost complete inability to produce independent locomotion. There are many problems and diseases that can result in…
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Fryns syndrome
Inherited as an autosomal recessive trait, Fryns syndrome is characterized by many abnormalities present at birth. These characteristics include abnormalities of the head and face, protrusion of part of the stomach and the small intestines into the chest cavity, underdeveloped lungs, cleft palate, underdevelopment of the fingers and toes, and some degree of mental retardation.…
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