| antibody deficiency syndrome | <syndrome> Any of a group of disorders associated with a defective antibody production due to defects in the B-type lymphocyte system or in T-type lymphocytes; chief manifestation is an increased susceptibility to infection by various microorganisms. See: agammaglobulinaemia, hypogammaglobulinaemia, immunodeficiency. Synonym: antibody deficiency disease. (05 Mar 2000) |
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| antiphospholipid antibody syndrome | <syndrome> An immune disorder characterised by the presence of abnormal antibodies in the blood associated with certain medical conditions including abnormal blood clotting, migraine headaches, premature miscarriage, and low blood platelet counts (thrombocytopenia). (12 Dec 1998) |
| antiphospholipid syndrome | <immunology, syndrome> An uncommon disorder that is characterised by hypercoagulability due to the presence of antibodies against phospholipids. These patients exhibit a tendency for recurrent and life-threatening thrombosis and embolic events (for example stroke). Individuals with antiphospholipid syndrome also have an increased tendency toward deep venous thrombosis, myocardial infarction and spontaneous abortions in females. Antiphospholipid syndrome may be seen by itself or in association with other autoimmune illnesses (for example lupus) or with some infections. Treatment includes long-term heparin and warfarin. (13 Jan 1998) |
| Anton's syndrome | <syndrome> In cortical blindness, lack of awareness of being blind. (05 Mar 2000) |
| anxiety syndrome | <syndrome> The constellation of autonomic nervous system signs and symptoms accompanying the apprehension of danger and dread. See: anxiety. (05 Mar 2000) |
| apallic syndrome | Diffuse, bilateral cerebral cortical degeneration caused by head injury, anoxia, or encephalitis, a state of persistent unresponsiveness, such as akinetic mutism, caused by brain damage. See: vegetative. Synonym: apallic syndrome, apallic. (05 Mar 2000) |
| Apert's syndrome | <paediatrics> A usually inherited disorder characterised by premature closing of the cranial suture lines resulting in a peaked shaped head and abnormal facial appearance. Since it is usually autosomal dominant one or both parents also have the disorder. Surgery is used to correct skull and facial abnormalities. Inheritance: autosomal dominant. (29 Dec 1997) |
| Apert syndrome | <syndrome> Apert (1906) defined a syndrome characterised by skull malformation (acrocephaly of brachysphenocephalic type) due to the premature closure of the cranial sutures and syndactyly of the hands and feet of a special type (complete distal fusion with a tendency to fusion also of the bony structures). The hand, when all the fingers are webbed, has been compared to a spoon and, when the thumb is free, to an obstetric hand. Two clinical categories are distinguished, a 'typical' acrocephalosyndactyly, to which Apert's name is appropriately applied and other forms lumped together as 'atypical' acrocephalosyndactyly. The feature distinguishing the two types is a middigital hand mass with a single nail common to digits 2-4, found in Apert syndrome and lacking in the others. A frequency of Apert syndrome of 1 in 160,000 births is estimated. Evidence suggests that Apert syndrome results from mutations in the gene encoding fibroblast growth factor receptor-2. Progressive synostosis occurs in the feet, hands, carpus, tarsus, cervical vertebrae, and skull, and proposed 'progressive synosteosis with syndactyly' is possibly a more appropriate designation. Clinical features: flat facies, shallow orbits, hypertelorism, narrow palate, craniosynostosis, brachysphenocephalic acrocephaly, syndactyly, broad thumb, broad great toe, single nail digits 2-4, variable mental retardation, corpus callosum and/or limbic malformations, fused cervical vertebrae. A skull X-ray can confirm the diagnosis. Treatment is surgical. Inheritance: autosomal dominant, paternal age effect. (05 Aug 1998) |
| Argonz-Del Castillo syndrome | <syndrome> Unphysiological lactation and amenorrhoea not following pregnancy characterised by hyperprolactinaemia and a pituitary adenoma. Synonym: Argonz-Del Castillo syndrome. (05 Mar 2000) |
| Arndt-Gottron syndrome | Generalised lichen myxoedematosus with diffuse thickening of the skin underlying the papules. Synonym: Arndt-Gottron syndrome. (05 Mar 2000) |
| Arnold-Chiari syndrome | <radiology> Chiari I herniation of medulla and cerebellar tonsils, 4th ventricle in normal position, Chiari II herniation of medulla, tonsils, vermis, 4th ventricle at foramen magnum, myelomeningocele, aqueductal stenosis most likely to be hydrocephalus, Chiari III further herniation, 4th ventricle below foramen magnum, encephalocele or myelomeningocele associated with: agenesis of corpus callosum, syrinx (12 Dec 1998) |
| arterial thoracic outlet syndrome | <syndrome> A rare disorder due to compression of the subclavian artery (with resultant poststenotic dilation) by a fully formed cervical rib; thrombi form in the dilated distal arterial segment, and distal limb ischemia may occur due to thromboembolic events. (05 Mar 2000) |
| arteriovenous strabismus syndrome | <syndrome> Strabismus in which the angle of deviation is more marked on looking upward or downward. See: A-esotropia, V-esotropia, A-exotropia, V-exotropia. (05 Mar 2000) |
| Ascher's syndrome | <syndrome> A condition in which a congenital double lip is associated with blepharochalasis and nontoxic thyroid gland enlargement. (05 Mar 2000) |
| Asherman's syndrome | <syndrome> Synechiae within the endometrial cavity, often causing amenorrhoea and infertility. (05 Mar 2000) |