stickler syndrome definition
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Stickler syndrome Stickler syndrome (hereditary progressive arthro-ophthalmopathy) is a group of genetic disorders affecting connective tissue, specifically collagen. Stickler syndrome is a subtype of collagenopathy, types II and XI. Stickler syndrome is characterized by distinctive facial abnormalities, ocular problems, hearing loss, and joint problems. It was first studied and characterized by Gunnar B. Stickler in 1965.
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Ehlers-Danlos syndrome Ehlers-Danlos syndrome is a group of disorders that affect connective tissues, which are tissues that support the skin, bones, blood vessels, and other organs.Defects in connective tissues cause the signs and symptoms of Ehlers-Danlos syndrome, which vary from mildly loose joints to life-threatening complications.islocations involving both hips are a characteristic finding in infants with the arthrochalasia type of Ehlers-Danlos syndrome. Many people with Ehlers-Danlos syndrome have soft, velvety skin that is highly elastic (stretchy) and fragile.
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Founder's syndrome Founder's syndrome (also founderitis) is a popular term for a difficulty faced by organizations where one or more founders maintain disproportionate power and influence following the effective initial establishment of the project, leading to a wide range of problems for both the organization and those involved in it. The founder makes all decisions, big and small, without a formal process or input from others. 2  Decisions are made in crisis mode, with little forward planning. 3  Staff meetings are held generally to rally the troops, get status reports, and assign tasks.
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What Is Shaken Baby Syndrome? Shaken baby syndrome is a form of child abuse. When a baby is shaken hard by the shoulders, arms, or legs, it can cause learning disabilities, behavior disorders, vision problems or blindness, hearing and speech issues, seizures, cerebral palsy, serious brain injury, and permanent disability.
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syndrome Definition of syndrome. 1 : a group of signs and symptoms that occur together and characterize a particular abnormality or condition. 2 : a set of concurrent things (as emotions or actions) that usually form an identifiable pattern.
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- Irlen Syndrome, also known as Scotopic Sensitivity System (SSS) is a type of visual perceptual problem. It is not an optical problem. It is a problem with how the nervous system encodes and decodes visual information.
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Stickler syndrome Stickler syndrome. Stickler syndrome (hereditary progressive arthro-ophthalmopathy) is a group of genetic disorders affecting connective tissue, specifically collagen.[1] Stickler syndrome is a subtype of collagenopathy, types II and XI. Stickler syndrome is characterized by distinctive facial abnormalities, ocular problems, hearing loss, and joint problems. It was first studied and characterized by Gunnar B. Stickler in 1965.
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- Asherson’s syndrome is an extremely rare autoimmune disorder characterized by the development,over a period of hours,days or weeks,of rapidly progressive blood clots affecting multiple organ systems of the body.
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Ehlers-Danlos Syndrome (EDS) What is Ehlers-Danlos Syndrome (EDS) Ehlers-Danlos Syndrome (EDS) is a group of genetic connective tissue disorders that result from the production of abnormal collagen. This can have wide ranging effects on the skin, joints and blood vessels. Skin can become excessively extendible (stretchy), fragile and bruise easily.
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What is Stickler syndrome Stickler syndrome is an autosomal dominant collagenopathy that can lead to abnormal facial features, including a flattened face; vision problems; a cleft palate; a small lower jaw; hearing loss; and joint problems such as arthritis.
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- Medical Definition of Stockholm syndrome. Stockholm syndrome: An extraordinary phenomenon in which a hostage begins to identify with and grow sympathetic to their captor. Named for an episode that occurred in Stockholm in August, 1973 when an armed Swedish robber took some bank workers captive, held them for six days and stole their hearts. The Stockholm syndrome is not limited to Swedes.
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Horner's syndrome Horner's syndrome. Horner's syndrome is a combination of symptoms that arises when a group of nerves known as the sympathetic trunk is damaged. The signs and symptoms occur on the same side as the lesion of the sympathetic trunk.
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Stickler Syndrome Symptoms of the following disorders can be similar to those of Stickler syndrome. COL2A1-related disorders are a group of disorders (including Stickler syndrome type I) which are due to mutations of the COL2A1 gene (allelic disorders).
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Stiff Person Syndrome General Discussion. Stiff-person syndrome (SPS) is a rare acquired neurological disorder characterized by progressive muscle stiffness (rigidity) and repeated episodes of painful muscle spasms. Muscular rigidity often fluctuates (i.e., grows worse and then improves) and usually occurs along with the muscle spasms.
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Stickler Syndrome How common is it Stickler Syndrome? Stickler syndrome is an autosomal dominant disease, meaning that 50% of an affected individual’s offspring will inherit the disease. Inheritance is equal between genders with a prevalence of 1 in 10,000 people.
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Pfeiffer Syndrome What is Pfeiffer Syndrome? Pfeiffer syndrome is a complex genetic disorder in which certain bones in the skull fuse (join together) early in their development. This prevents the skull from growing normally, affecting the shape of the head and face and sometimes causing increased pressure around the brain.
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Scleroderma CREST syndrome: A limited form of scleroderma, a disease of connective tissue that involves the formation of scar tissue (fibrosis) in the skin and sometimes also in other organs of the body.REST syndrome: A limited form of scleroderma, a disease of connective tissue that involves the formation of scar tissue (fibrosis) in the skin and sometimes also in other organs of the body.
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Stickler Syndrome Stickler syndrome refers to a group of disorders of connective tissue. Connective tissue, which is distributed throughout the body, multiple organ systems can be affected. The specific symptoms present in Stickler syndrome often vary greatly from one individual to another. Affected individuals may not have all of the symptoms .The eyes, ears, skeleton and joints are most often affected.
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Dressler syndrome Dressler syndrome is a secondary form of pericarditis that occurs in the setting of injury to the heart or the pericardium (the outer lining of the heart). It consists of fever, pleuritic pain, pericarditis and/or a pericardial effusion. Dressler syndrome is also known as postmyocardial infarction syndrome and the term is sometimes used to refer to post-pericardiotomy pericarditis. It was first characterized by William Dressler at Maimonides Medical Center in 1956.
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- 2) The shaken baby syndrome (SBS) is defined as a nonaccidental head injury that is characterized by an acute encephalopathy with subdural/subarachnoid and retinal hemorrhages and that occurs in the context of an inappropriate or inconsistent history.
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What is Irlen Syndrome? Irlen Syndrome, also known as Scotopic Sensitivity System (SSS) is a type of visual perceptual problem.
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stickler noun fanatic, nut (slang), maniac (informal), purist, perfectionist, pedant, martinet, hard taskmaster, fusspot (Brit. informal) I'm a bit of a stickler for accuracy.
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Prader-Willi Syndrome Prader-Willi syndrome is a complex genetic condition that affects many parts of the body. In infancy, this condition is characterized by weak muscle tone (hypotonia), feeding difficulties, poor growth, and delayed development.ost cases of Prader-Willi syndrome (about 70 percent) occur when a segment of the paternal chromosome 15 is deleted in each cell.
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sclerosis Medical Definition of sclerosis. plural. scleroses. \-ˌsēz\play. 1: a pathological condition in which a tissue has become hard and which is produced by overgrowth of fibrous tissue and other changes (as in arteriosclerosis) or by increase in interstitial tissue and other changes (as in multiple sclerosis)—called also hardening.
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- Oral allergy syndrome (OAS) or pollen-food allergy syndrome (PFS) is a hypersensitivity reaction to plant-based foods, manifesting most commonly with pruritus of the lips, tongue, and mouth.ral allergy syndrome (OAS) or pollen-food allergy syndrome (PFS) is a hypersensitivity reaction to plant-based foods, manifesting most commonly with pruritus of the lips, tongue, and mouth.
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Apert syndrome From Wikipedia, the free encyclopedia. Apert syndrome is a form of acrocephalosyndactyly, a congenital disorder characterized by malformations of the skull, face, hands and feet. It is classified as a branchial arch syndrome, affecting the first branchial (or pharyngeal) arch, the precursor of the maxilla and mandible. Disturbances in the development of the branchial arches in fetal development create lasting and widespread effects.