Category: C
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Congenital fiber type disproportion
Congenital fiber type disproportion (CFTD) is a rare muscle disease, specifically Type I muscle fibers. It is characterized by scoliosis, loss of muscle tone, short stature, dislocated hips, and foot deformities, all of which are evident at birth. Although CFTD is present at birth, symptoms tend to improve with age. Some cases of CFTD are…
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Congenital lobar emphysema
Congenital lobar emphysema is a chronic disease involving progressive hyperinflation of one or more pulmonary lobes, resulting in the trapping of air in the affected lobes. There are two distinct types of congenital lobar emphysema: (a) an overexpansion of the normal lung lobe and (b) a polyalveolar lobe, in which there are an increased number…
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Cytomegalovirus congenital
Cytomegalovirus (CMV) is a communicable DNA virus in the herpes family that when contracted in later childhood or adulthood is generally either asymptomatic or causes a short, mild illness with a fever and other flulike symptoms. It may remain in infected individuals’ systems throughout life and be excreted in their urine, saliva, breast milk, cervical…
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Cystic hygroma
Cystic hygromas are cystic lesions that are usually found in the neck. They are caused by dilated, or enlarged, lymphatic tissue that becomes malformed, resulting in a type of benign tumor. Cystic hygromas develop at approximately 40 days of gestation because of a failure of the embryonic lymphatics to connect with the venous system. Cystic…
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Cyclic vomiting syndrome
Cyclic vomiting syndrome (CVS) is a rare childhood disorder characterized by recurrent, prolonged episodes of severe vomiting, nausea, and prostration. The etiology of this disease is unknown. Children experience prolonged bouts of intense queasiness, retching, and emesis, lasting for hours or even spanning a day or two. These episodes recur periodically, without a discernible cause…
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Cutis marmorata telangiectatica congenita
Cutis marmorata telangiectatica congenita (CMTC), also known as Van Lohuizen’s syndrome, is a rare genetic skin disorder. CMTC occurs when dilated surface blood vessels result in patches of discolored skin. Often this discoloration is blue or purple and presents in a mottled pattern.
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Cryptophasia
Cryptophasia was historically described as a secret language between twins that they invent themselves and that is unintelligible to others. It has been found that some words are indeed invented, but for the most part the words come from the adult language to which they are exposed. At least 90% of the vocabulary in cryptophasia…
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Crouzon syndrome
Crouzon syndrome, also known as craniofacial dysostosis, is characterized by premature closure of the cranial sutures between certain bones in the skull and distinctive facial abnormalities. Crouzon syndrome can be evident at birth or during infancy. Crouzon syndrome is a rare disorder that can be inherited as an autosomal dominant trait or, in some cases,…
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Cri du chat syndrome
Cri du chat syndrome is a congenital disorder characterized at birth by the infant’s high-pitched, cat-like cry. This specific cry has been linked to a small larynx and is present immediately following birth, lasting for several weeks. Cri du chat syndrome is also known as Cat’s cry or 5p- syndrome. Incidence of cri du chat…
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Prenatal exposure crack
A child who is crack affected is one whose mother used crack or cocaine during pregnancy. The Office of the Inspector General estimates that 100,000 children are born prenatally exposed to crack in the United States each year. Prenatal crack exposure significantly increases the number of children who have significant problems in learning and require…