Category: C
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Coat’s disease
Coats’ disease, or exudative retinitis, is a rare eye disorder that is characterized by a white or yellowish matter called telangiectatic malformations in the macular area or peripheral retina. The abnormal enlargement of the retinal blood vessels results in leakage of the yellow matter into the retina. This disease usually occurs within the first 10…
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Clubfoot
Clubfoot is a descriptive term for a number of congenital deformities of one or both feet that vary in severity and etiology (Clubfoot.net, 2001). Involving both the soft tissues and the bone of the leg and foot, clubfoot generally occurs in isolation with no known cause, but it may also occur with chromosomal abnormalities and…
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Chronic inflammatory demyelinating polyneuropathy
Chronic inflammatory demyelinating polyneuropathy (CIDP) is a rare neurological disorder that results in swelling of the nerve roots and the destruction of the myelin sheath, the fatty covering that surrounds the axon of nerves in the body (National Organization for Rare Disorders, Inc. [NORD], 2001). The presentation, course, and severity of this disorder vary from…
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Chromosome 18p syndrome
18p syndrome occurs when any piece of the short arm of Chromosome 18 is missing. There are three classes of Chromosome 18 deletion syndromes; 18q, 18p, and Ring 18. Deletion syndromes of Chromosome 18 are the second most common of the autosomal deletion syndromes. Most deletions occur very early in the embryonic stage of development.…
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Choroideremia
Choroideremia is also known as choroidal sclerosis, progressive choroidal atrophy, progressive tapetochoroidal dystrophy, or TCD (National Organization for Rare Disorders [NORD], 2000). It is a rare inherited disorder that causes progressive loss of vision due to degeneration of the choroid and retina (PDR Medical Dictionary, 2000). A hereditary primary choroidal degeneration transmitted as an X-linked…
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Chlamydia trachomatis infections
Chlamydia trachomatis infections are among the most common sexually transmitted bacterial diseases. These infections, often marked by a red and swollen area and discharge, can affect the eyes, the lungs, and the genital area. Infections can be transmitted to children either by a sexual partner or from birth by their mother. Nearly two thirds of…
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Childhood psychosis
Childhood psychosis is a psychiatric disorder that involves disturbed thinking and poor reality testing. Psychosis in children is manifest by delusional thinking and hallucinations (i.e., auditory, visual, and tactile). It is considered rare in children younger than 6 years of age. Psychotic disorders are often associated with schizophrenia; however, the Diagnostic and Statistical Manual of…
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Charcot-marie-tooth disease
Charcot-Marie-Tooth disease (CMT) is a genetically heterogeneous group of neuromuscular disorders characterized by slow progressive atrophy; wasting and weakness of the distal limb muscles; sensory loss in the feet, lower legs, and hands; skeletal deformities and reduced tendon reflexes. The disease was named after three physicians who simultaneously commented on the characteristics in 1886, Howard…
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Cerebro-hepato-renal syndrome
Cerebro-hepato-renal syndrome, sometimes called Zellweger syndrome, is a rare genetically determined disorder identified as one of the leukodystrophies in which the area affected is the growth of the myelin sheath, which is the fatty covering that acts and as insulation on nerve fibers in the brain. It is characterized by the absence or reduction of…
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Chronic cerebral lesions
Chronic cerebral lesions are the result of changes in the structure or physiological function of the brain. Cerebral lesions may occur as the result of either traumatic brain injuries (TBIs) or neurological diseases. Both TBIs and neurological diseases are associated with tissue and axonal damage. The extent and severity of damage are related to a…