Mindblown: a blog about philosophy.
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Beckwith-wiedemann syndrome
Beckwith-Wiedemann syndrome (BWS) is a rare disorder recognized primarily by a consistent grouping of findings of unknown etiology (Ocean State Online, 2001) and is characterized by excessive size and height at birth. For instance, in many males, birth length may be at or above the 95th percentile. Typically, their height remains within this range throughout…
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Balo disease
Balo disease, also known as concentric sclerosis, is a childhood neurological disorder characterized by brain demyelination. Rapid and progressive loss of the fatty covering around nerve fibers in the brain results in various neurological symptoms depending on the brain areas affected. The damage to the brain consists of irregular patches in a series of widening…
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Baller-gerold syndrome
This is a rare, hereditary disorder characterized by premature fusion of the sutures between the skull bones (craniosynostosis) and various malformations of the bones in the forearm, hand, and fingers.
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Atypical child syndrome
Atypical child syndrome, which was borrowed from the medical community and was commonly used prior to 1980, is almost never used to identify children today. This syndrome refers to children who are exceptional. Exceptional children differ from average or normal children and are now characterized more specifically in terms of their physical or behavioral disabilities.…
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Atrioventricular septal defect
Atrioventricular septal defect (AVSD) is a congenital heart defect (present at birth). It is also known as cor biloculare. Additionally, there are several subdivisions depending on the size and location of the defect. Specifically, these subdivisions are atrial and septal and small ventricular septal defect, atrial septal defect primum, complete atrioventricular septal defect, incomplete atrioventricular…
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Ataxia-telangiectasia
Ataxia-telangiectasia (A-T) is an autosomal recessive neurodegenerative genetic disorder characterized by progressive ataxia due to cerebellar degeneration, oculocutaneous telangiectasia, immunodeficiency with recurrent sinopulmonary infections, significant sensitivity to ionizing radiation, and increased risk of cancers, especially lymphoma and leukemia. Incidence is estimated as 1 in 40,000 births, although this may be an underestimate due to early…
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Marie’s ataxia
Ataxia is a disorder that involves incoordination of voluntary muscle movements. Marie’s ataxia is a designation for hereditary conditions expressed through dominant genes and characterized by spinocerebellar degeneration. These conditions normally occur in adulthood, although the time of onset varies widely. The clinical features of Marie’s ataxia are heterogeneous within and between families, so diagnosis…
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Hereditary ataxia
Hereditary ataxia is a designation for inherited disorders that involve incoordination of voluntary muscle movements as the result of spinocerebellar degeneration. There are several forms of hereditary ataxia, which are delineated according to how they are manifested genetically. Autosomal recessive forms of hereditary ataxia are expressed by means of a mutated recessive gene. For the…
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Arteriovenous malformations
Arteriovenous malformations (AVMs) of the central nervous system are a set of vascular abnormalities. These congenital lesions are typified by the failure of development of the capillary network normally separating arteries and veins. Lack of a capillary bed allows exaggerated blood flow through the malformation, shunting and stealing blood from other areas of the vascular…
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Ocular motor apraxia
Ocular motor apraxia, Cogan type (O.MA) is a rare congenital eye disorder. This is also referred to as congenital oculomotor apraxia (COMA). Cogan first reported this disorder in 1952. It is thought to be inherited as an autosomal recessive genetic trait. However, school-age children, as a secondary problem to neurological and metabolic diseases, may acquire…
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