| 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) |
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| 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) |
| congenital erythropoietic porphyria | A group of metabolic disorders that result from a disturbance in porphyrin metabolism, causing increased formation and excretion of porphyrin or its precursors. Acute intermittent porphyria is a rare inherited (autosomal dominant) form that can result in abdominal pain, photosensitivity and neurological disturbances. The various forms can be differntiated measuring various blood prophyrins. Inheritance: autosomal dominant. (27 Sep 1997) |
| congenital facial diplegia | <syndrome> A developmental bilateral facial paralysis usually associated with oculomotor or other neurological disorders. Synonym: congenital facial diplegia. (05 Mar 2000) |
| congenital fibrosis of the extraocular muscles | An autosomal dominant disorder associated with blepharoptosis and absence of eye movements. (05 Mar 2000) |
| congenital generalised fibromatosis | Multiple subcutaneous and visceral fibrous tumours present at birth; a rare disorder often fatal in the first week of life, although sometimes undergoing spontaneous remission; probable autosomal recessive inheritance. (05 Mar 2000) |
| congenital giant pigmented nevus | These large pigmented (often hairy) congenital nevi are important because of their increased risk (10 to 15%) of conversion into malignant melanoma. A biopsy can confirm if cells have turned malignant. Any change in a pre-existing nevus should prompt a physician evaluation. (27 Sep 1997) |
| congenital glaucoma | An affection of infancy, marked by an increase of intraocular pressure with enlargement of the eyeball. Synonym: congenital glaucoma, hydrophthalmia, hydrophthalmos, hydrophthalmus. Origin: G. Bous, ox, + ophthalmos, eye (05 Mar 2000) |