| congenital total lipodystrophy | Lipodystrophy characterised by almost complete lack of subcutaneous fat, accelerated rate of growth and skeletal development during the first 3 to 4 years of life, muscular hypertrophy, cardiac enlargement, hepatosplenomegaly, hypertrichosis, renal enlargement, hypertriglyceridemia, and hypermetabolism; both autosomal dominant and X-linked varieties exist. (05 Mar 2000) |
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| partial face-sparing lipodystrophy | A syndrome beginning at puberty that resembles total lipodystrophy but is inherited as an autosomal or X-linked dominant form. (05 Mar 2000) |
| membranous lipodystrophy | A rare metabolic disease in which bone marrow fat cells are transformed into thick convoluted PAS-staining membranes enclosing weakly osmophilic material; leads to progressive cystic resorption of limb bones and dementia with sudanophilic leukodystrophy. (05 Mar 2000) |
| progressive lipodystrophy | A condition characterised by a complete loss of the subcutaneous fat of the upper part of the torso, the arms, neck, and face, sometimes with an increase of fat in the tissues about and below the pelvis. Synonym: Barraquer's disease, lipodystrophia progessiva superior, partial lipoatrophy, Simons' disease. (05 Mar 2000) |
| insulin lipodystrophy | Dystrophic atrophy of subcutaneous tissues in diabetics at the site of frequent injections of insulin. Synonym: insulin lipoatrophy. (05 Mar 2000) |
| intestinal lipodystrophy | <gastroenterology> A rare disorder of intestinal malabsorption that occurs as the result of the intestine. Treatment is with antibiotics. (27 Sep 1997) |
| familial lipodystrophy | Autosomal dominant; partial lip associated with multifacial hypoplasin, retarded bone age, and hypotichosis. (05 Mar 2000) |
| lipodystrophy | 1. <biochemistry> Any disturbance of fat metabolism. 2. A group of conditions due to defective metabolism of fat, resulting in the absence of subcutaneous fat, which may be congenital or acquired and partial or total. Synonym: lipoatrophy, lipodystrophia. (18 Nov 1997) |
| adrenal hyperplasia, congenital | A group of inherited disorders of adrenal steroidogenesis, the physical expression of which varies with the sex of the patient, the severity of the congenital enzyme defect, and the age at which the defect makes its presence felt. The most common form, the simple virilizing form, is due to a 21-hydroxylase deficiency. There is also a salt-losing form (a more complete 21-hydroxylase deficiency), a hypertensive form (11-hydroxylase deficiency), a 17-hydroxylase deficiency form, a desmolase deficiency form, and a 3-beta-hydroxysteroid deficiency form. (12 Dec 1998) |
| anaemia, dyserythropoietic, congenital | A familial disorder characterised by anaemia with multinuclear erythroblasts, karyorrhexis, asynchrony of nuclear and cytoplasmic maturation, and various nuclear abnormalities of bone marrow erythrocyte precursors. Type II is the most common of the 3 types of congenital dyserythropoietic anaemia; it is often referred to as hempas, based on the hereditary erythroblast multinuclearity with positive acidified serum test. (12 Dec 1998) |
| anaemia, haemolytic, congenital | Haemolytic anaemia due to various intrinsic defects of the erythrocyte. (12 Dec 1998) |
| anaemia, haemolytic, congenital nonspherocytic | Any one of a group of congenital haemolytic anaemias in which there is no abnormal haemoglobin or spherocytosis and in which there is a defect of glycolysis in the erythrocyte. In some cases, pyruvate kinase deficiency has been demonstrated; in other cases, glucose-6-phosphate dehydrogenase deficiency has been demonstrated. (12 Dec 1998) |
| bovine congenital ataxia | An autosomal recessive ataxia seen in several European breeds of cattle. (05 Mar 2000) |
| bullous congenital ichthyosiform erythroderma | Diffusely red, eroded skin at birth, with subsequent scaling, tending to improve in later life, characterised by generalised epidermolytic hyperkeratosis and autosomal dominant inheritance. See: epidermolytic hyperkeratosis. Synonym: generalised epidermolytic hyperkeratosis, ichthyismus hystrix, ichthyosis hystrix. (05 Mar 2000) |
| pain insensitivity, congenital | Absence of sensibility to pain or inability to feel pain. The condition is present at birth. (12 Dec 1998) |