| 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) |
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| 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) |
| 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) |