| 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) |
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| 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) |
| 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) |
| asplenia syndrome | <syndrome> Syndrome seen in patients who had no functional spleen, either due to surgical removal of disease (e.g., sickle cell anaemia); includes increased susceptibility to bacterial infection, especially pneumococcal infection. (05 Mar 2000) |
| ataxia telangiectasia syndrome | ataxia telangiectasia |
| auriculotemporal nerve syndrome | <syndrome> Localised flushing and sweating of the ear and cheek in response to eating. Synonym: Frey's syndrome, gustatory sweating syndrome. (05 Mar 2000) |
| autoerythrocyte sensitization syndrome | <syndrome> A condition, usually occurring in women, in which the individual bruises easily (purpura simplex) and the ecchymoses tend to enlarge and involve adjacent tissues, resulting in pain in the affected parts; so-called because similar lesions are produced by inoculation of the individual's blood or various components of red blood cells and it is thought to be a form of localised autosensitization, although no specific antibodies have been demonstrable; in some individuals, there seems to be a psychogenic mechanism. Synonym: Gardner-Diamond syndrome, psychogenic purpura. (05 Mar 2000) |
| Avellis' syndrome | <syndrome> Unilateral paralysis of the larynx and velum palati, with contralateral loss of pain and temperature sensibility in the parts below. Synonym: jugular foramen syndrome. (05 Mar 2000) |
| A-V 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) |
| Ayerza's syndrome | <syndrome> Sclerosis of the pulmonary arteries in chronic cor pulmonale; associated with severe cyanosis, it is a condition resembling polycythemia vera but resulting from primary pulmonary arteriosclerosis or primary pulmonary hypertension and characterised by plexiform lesions of arterioles. Synonym: Ayerza's disease, cardiopathia nigra, plexogenic pulmonary arteriopathy. (05 Mar 2000) |
| Babinski's syndrome | <syndrome> The combination of cardiac, arterial, and central nervous system manifestations of late syphilis. (05 Mar 2000) |