| IRMA | 1) Intra-Retinal Microvascular Abnormalities 2) Immuno-Radio-Metric Assay... |
|---|---|
| AGR | aniridia, genitourinary abnormalities, and mental retardation; anticipatory goal response |
| AUA | American Urological Association; asymptomatic urinary abnormalities |
| IRMA | immunoradiometric assay; intraretinal microvascular abnormalities |
| KBG | syndrome of multiple abnormalities designated with the original patient's initials |
| congenital cerebral aneurysm | Localised dilation of a cerebral vessel; usually a berry aneurysm. (05 Mar 2000) |
|---|---|
| congenital choreoathetosis | A type of cerebral palsy manifested predominantly as bilateral involuntary movements, beginning at about the age of 3 years, and preceded by generalised hypotonia and delayed motor development. Due to various causes, including kernicterus and birth hypoxia. Synonym: congenital choreoathetosis, double congenital athetosis, Vogt syndrome. (05 Mar 2000) |
| congenital clasped thumb with mental retardation | See: Clasped thumbs and mental retardation. (12 Dec 1998) |
| congenital conus | A congenital inferior crescent on the choroid at the edge of the optic disk; not associated with myopia. Synonym: congenital conus. (05 Mar 2000) |
| congenital defect | A birth defect. (12 Dec 1998) |
| congenital diaphragmatic hernia | Absence of the pleuroperitoneal membrane (usually on the left) or an enlarged Morgagni's foramen which allows protrusion of abdominal viscera into the chest. Synonym: Bochdalek's hernia. (05 Mar 2000) |
| congenital dyserythropoietic anaemia | A group of autosomal recessive anaemia's characterised by ineffective erythropoiesis, bone marrow erythroblastic multinuclearity, and secondary haemochromatosis. Three types are described: Type I, macrocytic, megaloblastic anaemia with erythroblastic internuclear chromatin bridges, type II,, normoblastic anaemia with multinucleated erythroblasts, type III, macrocytic anaemia with erythroblastic multinuclearity and gigantoblasts. (05 Mar 2000) |
| congenital dysphagocytosis | <disease> Chronic granulomatous disease is usually fatal in childhood, in which the production of hydrogen peroxide by phagocytes does not occur because of a lesion in an NADP dependent oxidase. Catalase negative bacteria are not killed and there is no luminol enhanced chemiluminescence when the cells are tested. The absence of the oxygen dependent killing mechanism is not itself fatal but seriously compromises the primary defense system. at least three separate lesions can cause the syndrome, the commonest being a defect in plasma membrane cytochrome. Acronym: CGD (12 Jan 1998) |
| congenital dysplasia of the hip | A malformation of the hip joint that is present at birth. Genetic factors likely play a role in this disorder. Features include hip dislocation, asymmetry of leg positions, asymmetric fat folds and diminished movement on the affected side. Some children will exhibit little or no features and must be diagnosed by physical examination of the hip joints. (27 Sep 1997) |
| congenital dysplastic angiectasia | <syndrome> A congenital malformation syndrome characterised by the triad of asymmetric limb hypertrophy, haemangiomata, and nevi. Asymmetric limb hypertrophy is enlargement of one limb and not the corresponding limb on the other side, the enlarged limb being 3 times more likely to be a leg than an arm in ktw; and the limb enlargement is of bone as well as soft tissue. The haemangiomas, abnormal nests of blood vessels that proliferate inappropriately and excessively, cover a remarkable range from small innocuous capillary haemangiomas ( strawberry marks ) to huge cavernous haemangiomas. The nevi are pigmented moles on the skin; in ktw there are often also dark linear streaks on the skin, streaks due to too much pigment. There can be other abnormalities but the triad is the consistent clinical centrepiece of the disease. most persons with ktw have an enlarged leg and do relatively well without treatment or, for example, with only compression from an elastic stocking. Skin ulcers and other skin problems can occur over the swollen leg. Usually, the treatment is conservative. Surgery is almost never needed. The only possible exceptions are the very rare situations in which the leg reaches gigantic proportions or secondary clotting difficulties arise (due to trapping and destruction of blood platelets in a huge haemangioma). Then, amputation may become necessary. The cause of ktw syndrome is unknown. (12 Dec 1998) |
| congenital dysplastic angiomatosis | Autosomal dominant angiomatosis in which there is dysplasia of the underlying tissues, sometimes with overgrowth of bone (Klippel-Trenaunay-Weber syndrome), or encephalotrigeminal angiomatosis (Sturge-Weber syndrome) in which there is an angioma in the distribution of one or more branches of the trigeminal nerve, with vascular anomalies and calcification of the cerebral cortex. (05 Mar 2000) |
| congenital ectodermal defect | Incomplete development of the epidermis and skin appendages; the skin is smooth and hairless, the facies abnormal, and the teeth and nails may be affected; sweating may be deficient. Synonym: congenital ectodermal dysplasia. (05 Mar 2000) |
| congenital ectodermal dysplasia | Incomplete development of the epidermis and skin appendages; the skin is smooth and hairless, the facies abnormal, and the teeth and nails may be affected; sweating may be deficient. Synonym: congenital ectodermal dysplasia. (05 Mar 2000) |
| congenital elephantiasis | Congenital enlargement of one or more of the limbs or other parts, due to dilation of the lymphatics. (05 Mar 2000) |
| congenital epulis of newborn | A congenital benign nodular tumour of the alveolar ridge, of unknown histogenesis; histologically, it is composed of large cells with a granular cytoplasm similar to that of a granular cell tumour (myoblastoma). (05 Mar 2000) |