Weber-Cocayne syndrome
Weinrich et Emmerson
| Paxton's disease | Corynebacterium infection of axillary and pubic hairs with development of yellow (flava), black (nigra), or red (rubra) concretions around the hair shafts; frequently asymptomatic. Synonym: lepothrix, Paxton's disease, trichomycosis chromatica, trichomycosis nodosa, trichomycosis nodularis, trichomycosis palmellina, trichonocardiosis axillaris, trichonodosis. (05 Mar 2000) |
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| pearl-worker's disease | Inflammatory hypertrophy of the bones affecting grinders of mother-of-pearl. (05 Mar 2000) |
| reportable disease | <epidemiology> Diseases, usually of an infectious nature, whose occurrence is required by law to be made known to a health officer or local government authority. (05 Dec 1998) |
| Centers for Disease Control and Prevention | <organisation> The U.S. Public health agency serving as the centre for preventing, tracking controlling and investigating the epidemiology of AIDS and other diseases. (26 Mar 1998) |
| central core disease | A congenital myopathy characterised by hypotonia, delay of motor development in infancy, and nonprogressive or slowly progressive muscle weakness; on biopsy the central core of muscle fibres stains abnormally, myofibrils are abnormally compact, and there is virtual absence of mitochondria and sarcoplasmic reticulum; histochemically, the cores are devoid of oxidative enzyme, phosphorylase, and ATPase activity; autosomal dominant inheritance, often subclinical. (05 Mar 2000) |
| central core disease of muscle | <neurology> One of the conditions that produces floppy baby syndrome. It causes hypotonia (floppiness) in the newborn baby, slowly progressive muscle weakness, and muscle cramps after exercise. Muscle biopsy shows a key diagnostic finding (absent mitochondria in the centre of many type I muscle fibres). The disease is inherited as a dominant trait. The CCD gene is on chromosome 19 (and involves ryanodine receptor-1). Inheritance: autosomal dominant. (12 Dec 1998) |
| Vogt-Spielmeyer disease | Cerebral sphingolipidosis, late juvenile type. Synonym: Vogt-Spielmeyer disease. (05 Mar 2000) |
| medullary cystic disease | <disease> A rare hereditary kidney disease characterised by the gradual loss of kidney function due to the presence of cysts in the renal medulla. Symptoms include high urine output (cannot concentrate the urine), weakness, weight loss, nocturia, fatigue and headache. There is no cure and usually progresses from chronic renal failure to end stage renal disease. (27 Sep 1997) |
| medullary cystic kidney disease | <radiology> Mode of inheritance uncertain, usually affects young adults (early 20s), associated with red or blond hair (!!), causes salt wasting, polyuria, azotaemia, affects both kidneys, with progressive disease patients need dialysis or transplant (12 Dec 1998) |
| central Recklinghausen's disease type II | type 1 neurofibromatosis |
| Centres for Disease Control | The federal facility for disease eradication, epidemiology, and education headquartered in Atlanta, Georgia, which encompasses the Centre for Infectious Diseases, Centre for Environmental Health, Centre for Health Promotion and Education, Centre for Prevention Services, Centre for Professional Development and Training, and Centre for Occupational Safety and Health. Formerly named Centre for Disease Control (1970), Communicable Disease Centre (1946). (05 Mar 2000) |
| centres for disease control and prevention | See: CDC. (12 Dec 1998) |
| Voltolini's disease | Disease of the labyrinth, leading to deafmutism, in young children. (05 Mar 2000) |
| Pel-Ebstein disease | The remittent fever common in Hodgkin's disease. Synonym: Pel-Ebstein disease. (05 Mar 2000) |
| Pelizaeus-Merzbacher disease | A sudanophilic leukodystrophy with a tigroid appearance of the myelin resulting from patchy demyelination. Type 1-classic, nystagmus and tremor appearing in the first few months of life, followed by slow motor development sometimes with choreoathetosis, spasticity, optic atrophy and seizures, with death in early adulthood, X-linked recessive inheritance; type 2-contralateral form with death in months to years after birth, X-linked recessive inheritance; type 3-transitional, with death in the first decade; type 4-adult form associated with involuntary movements, ataxia and hyperreflexia, but without nystagmus; type 5-variant forms. Cockayne is sometimes included as a sixth form. Synonym: Merzbacher-Pelizaeus disease. (05 Mar 2000) |