Category: C
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Costello syndrome
Costello syndrome is an extremely rare genetic disorder marked by growth delay, excessive skin, tumor growth, and mild mental retardation. There have been approximately 150 cases reported to date of Costello syndrome, and over 30 published cases.
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Cornelia de lange syndrome
Cornelia de Lange syndrome (CdLS) is a rare genetic disorder that is characterized by prenatal and postnatal growth retardation, facial abnormalities, cognitive deficits or mental retardation, and developmental delays. In the United States, the disorder occurs in approximately 1 in 10,000 births and appears to affect males and females equally. Recurrence within affected families appears…
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Corneal dystrophy
The cornea is the transparent outer layer of the eye. Corneal tissue consists of five layers: the epithelium, the Bowman’s layer, the stroma, the Descemet’s membrane, and the endothelium. A corneal dystrophy is a condition in which one or more parts of the cornea lose their normal clarity due to the accumulation of abnormal material.…
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Cor triatrium
Cor triatrium is a birth defect in which the left atrium of the heart is doubled. The atrium is formed with a perforated membrane separating the two chambers. Severity of this condition is dependant on the degree of separation and the presence or absence of a shunt between the two sections.
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Conradi-hunermann syndrome
This disorder is one of three clinically, genetically, and bio-chemically distinct forms of chondrodysplasia punctata, which is a rare hereditary bone disease. The hallmarks of Conradi-Hunermann syndrome (CHS) are mild to moderate short stature, asymmetric limb shortening, pinpoint calcifications of epiphyses (the areas of active bone growth), and large skin pores.
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Congenital word blindness
Congenital word blindness is a term used to describe poor readers. Morgan assumed that the disorder was congenital rather than acquired by postnatal injury or assault. Congenital word blindness was first thought to be caused by a defect in the angular gyrus of the left cerebral hemisphere, an area of the brain associated with visual…
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Colorado tick fever
Colorado tick fever is an acute viral infection transmitted by the bite of a tick. This disease is characterized by a sudden onset of symptoms including fever, severe muscle aches (myalgia), joint stiffness, headache, sore throat, sensitivity to light (photophobia), nausea, vomiting, fatigue, and occasionally a raised rash. More severe symptoms include sequelae such as…
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Coffin-Lowry syndrome
Coffin-Lowry syndrome is a rare genetic disorder characterized by craniofacial and skeletal abnormalities, mental retardation, short stature, characteristic hands, and hypotonia. Characteristic facial features may include an underdeveloped upper jaw bone (maxillary hypoplasia), an abnormally prominent brow, down-slanting eyelid folds (palpebral fissures), widely spaced eyes (hypertelorism), large ears, and unusually thick eyebrows. Skeletal abnormalities may…
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Cockayne syndrome
Cockayne syndrome is characterized by growth retardation, microcephaly, photosensitivity, and a prematurely aged appearance. In the classical and most common form of Cockayne syndrome (Type I), growth and development generally proceed at a normal rate in infancy, with symptoms becoming apparent after 1 or 2 years of age. An early-onset or congenital form of Cockayne…
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Cocaine abuse
Cocaine is a powerfully addictive stimulant that became extremely popular and widely used in the 1980s and 1990s. It is typically sold on the street as a fine, white, crystalline powder. Cocaine can be sniffed or snorted, injected, or smoked. Street names include coke, C, snow, flake, or blow (National Institute on Drug Abuse, 2001a).…