| oedema, hereditary angioneurotic | A genetic form of angioedema. (Angioedema is also referred to as Quinke's disease.) Persons with it are born lacking an inhibitor protein (called C1 esterase inhibitor) that normally prevents activation of a cascade of proteins leading to the swelling of angioedema. Patients can develop recurrent attacks of swollen tissues, pain in the abdomen, and swelling of the voice box (larynx) which can compromise breathing. The diagnosis is suspected with a history of recurrent angioedema. It is confirmed by finding abnormally low levels of C1 esterase inhibitor in the blood. Treatment options include antihistamines and male steroids (androgens) that can also prevent the recurrent attacks. Also called hereditary angioedema. (12 Dec 1998) |
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| optic atrophy, hereditary | An inherited disorder in which optic atrophy is associated with muscle weakness, peroneal muscular atrophy and, in some patients, lancinating pains. In these patients the peripheral sensory neurons are probably affected. (12 Dec 1998) |
| telangiectasia, hereditary haemorrhagic | An autosomal dominant vascular anomaly characterised by the presence of multiple small telangiectases of the skin, mucous membranes, gastrointestinal tract, and other organs, associated with recurrent episodes of bleeding from affected sites and gross or occult melena. (12 Dec 1998) |
| elliptocytosis, hereditary | An intrinsic defect of erythrocytes inherited as an autosomal dominant trait. The erythrocytes assume an oval or elliptical shape. (12 Dec 1998) |
| exostoses, multiple hereditary | Hereditary disorder transmitted by an autosomal dominant gene and characterised by multiple exostoses (multiple osteochondromas) near the ends of long bones. The genetic abnormality results in a defect in the osteoclastic activity at the metaphyseal ends of the bone during the remodeling process in childhood or early adolescence. The metaphyses develop benign, bony outgrowths often capped by cartilage. A small number undergo neoplastic transformation. (12 Dec 1998) |
| eye diseases, hereditary | Transmission of gene defects or chromosomal aberrations/abnormalities which are expressed in extreme variation in the structure or function of the eye. These may be evident at birth, but may be manifested later with progression of the disorder. (12 Dec 1998) |
| Leber's hereditary optic atrophy | Hereditary degeneration of the optic nerve and papillomacular bundle with resulting rapid loss of central vision, progressive for several weeks, then usually stationary with permanent central scotoma; age of onset is variable, most often in the third decade; more males than females are affected and transmission is cytoplasmic and strictly on the female side. Mutation on the mitochondrial chromosome involved, which presumably interacts with an X-linked mutant. This mechanism may explain the bizarre sex ratio, which differs significantly from one country to another. (05 Mar 2000) |
| anterofacial dysplasia | Abnormal growth of the face or cranium in an anteroposterior direction as seen and measured with a cephalogram. (05 Mar 2000) |
| arrhythmogenic right ventricular dysplasia | A congenital cardiomyopathy in which transmural infiltration of adipose tissue results in weakness and aneurysmal bulging of the infundibulum, apex, and posterior basilar region of the right ventricle and leads to ventricular tachycardia arising in the right ventricle. (12 Dec 1998) |
| asphyxiating thoracic dysplasia | Hereditary hypoplasia of the thorax, associated with pelvic skeletal abnormality. Synonym: asphyxiating thoracic chondrodystrophy, Jeune's syndrome, thoracic-pelvic-phalangeal dystrophy. (05 Mar 2000) |
| bronchopulmonary dysplasia | <embryology, paediatrics> A form of chronic lung disease of uncertain cause sometimes seen in children who have received mechanical respiratory support (with high oxygenation) in the neonatal period. Often associated with those infants who have been treated for hyaline membrane disease. Origin: Gr. Plassein = to form (27 Sep 1997) |
| mammary dysplasia | An obsolete term for fibrocystic condition of the breast. (05 Mar 2000) |
| mandibulofacial dysplasia | A hereditary disorder occurring in two forms: the complete form (franceschetti's syndrome) is characterised by antimongoloid slant of the palpebral fissures, coloboma of the lower lid, micrognathia and hypoplasia of the zygomatic arches, and microtia. It is transmitted as an autosomal trait. The incomplete form (treacher collins syndrome) is characterised by the same anomalies in less pronounced degree. It occurs sporadically, but an autosomal dominant mode of transmission is suspected. (12 Dec 1998) |
| ventriculoradial dysplasia | A congenital syndrome consisting of a ventricular septal defect with associated absence of thumb or radius. (05 Mar 2000) |
| cerebral dysplasia | Abnormal development of the telencephalon. (05 Mar 2000) |