| Maroteaux-Lamy syndrome | <biochemistry, syndrome> An error of mucopolysaccharide metabolism due to deficiency of the lysosomal enzyme arylsulphatase B. It is characterised by excretion of dermatan sulfate in the urine, growth retardation, lumbar kyphosis, sternal protrusion, genu valgum, usually hepatosplenomegaly, and no mental retardation. Onset occurs after two years of age. Inheritance: autosomal recessive. Synonym: polydystrophic dwarfism, mucopolysaccharidosis type VI. (05 Mar 2000) |
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| Marshall syndrome | <syndrome> Syndrome of mid-face hypoplasia, cataract, sensorineural hearing loss, and hypohidrosis. It is disputed whether this syndrome is distinct from Stickler's syndrome. (05 Mar 2000) |
| carotid artery occlusive syndrome | <syndrome> Aortic arch syndrome, also referred to by many as vertebral-basilar artery disease, carotid artery occlusive syndrome and subclavian steal syndrome. Characterised by a constellation of signs and symptoms which occur secondary to abnormalities in the major arteries which extend off of the aortic arch. These abnormalities are structural and most often secondary to the effects of atherosclerosis, blood clots, trauma or a congenital abnormality. Symptoms of this condition include various neurologic symptoms, reduction in pulse and changes in blood pressure. (27 Sep 1997) |
| carotid sinus syndrome | <syndrome> Stimulation of a hyperactive carotid sinus, causing a marked fall in blood pressure due to vasodilation, cardiac slowing, or both; syncope with or without convulsions or A-V block may occur. Synonym: Charcot-Weiss-Baker syndrome. (05 Mar 2000) |
| Martorell's syndrome | <syndrome> Aortic arch syndrome, also referred to by many as vertebral-basilar artery disease, carotid artery occlusive syndrome and subclavian steal syndrome is characterised by a constellation of signs and symptoms which occur secondary to abnormalities in the major arteries which extend off of the aortic arch. These abnormalities are structural and most often secondary to the effects of atherosclerosis, blood clots, trauma or a congenital abnormality. Symptoms of this condition include various neurologic symptoms, reduction in pulse and changes in blood pressure. (27 Sep 1997) |
| masa syndrome | <syndrome> MASA stands for mental retardation, aphasia, shuffling gait, and adducted thumbs. Features of the syndrome include (1) neurologically: mental retardation and aphasia (lack of speech); (2) limbs: adducted (clasped) thumbs, absent extensor pollicis longus and/or brevis muscles to the thumb, shuffling gait, and leg spasticity; (3) growth: small body size; (4) skeleton: lumbar lordosis (sway back). It is inherited as an x-linked trait and so affects mainly boys. Alternative names for masa include clasped thumb and mental retardation, congenital clasped thumb with mental retardation, adducted thumb with mental retardation, and the gareis-mason syndrome. inheritance: X-linked (29 Dec 1998) |
| carpal tunnel syndrome | <syndrome> A condition where there is a disturbance of median nerve function in the wrist as the nerve passes through the carpal tunnel. A buildup of scar tissue (inside the carpal tunnel) can lead to this surgically correctable problem. Often treated with splinting and anti-inflammatory agents. (27 Sep 1997) |
| Carpenter's syndrome | <syndrome> The association of primary hypothyroidism, primary adrenocortical insufficiency, and diabetes mellitus. Origin: C. C. J. Carpenter Synonym: acrocephalopolysyndactyly. Origin: G. Carpenter (05 Mar 2000) |
| vertical retraction syndrome | <syndrome> A retraction of the globe and pseudoptosis on attempted adduction; due to co-innervation of the horizontal recti. Sometimes there is an inability to abduct the affected eye (type 1), or adduct the affected eye (type 2), or both (type 3). Synonym: Duane's syndrome. (05 Mar 2000) |
| Gerstmann-Straussler-Scheinker syndrome | <syndrome> A familial spongiform encephalopathy. Transgenic mice with a mutant form of the PrP gene from patients with this syndrome develop degenerative brain disease that is similar, but not identical, to that caused by scrapie. It is a more chronic cerebellar form of spongiform encephalopathy, producing a neurodegenerative condition that has morphological similarities to Creutzfeldt-Jakob syndrome. However, in this syndrome there is slower progression, signs of spinocerebellar ataxia, and the spongiosis is less pronounced. Prion proteins and amyloid plaques are found in the brain of patients with the syndrome. A germline mutation of the prion protein has been demonstrated. (12 Jul 2000) |
| Gerstmann syndrome | <syndrome> Tetrad of finger agnosia, dysgraphia or agraphia, dyscalculia or acalculia, and right-left disorientation producing confusion of laterality of the body. The syndrome can occur in brain-damaged and apparently normal children as well as in adults who have had vascular accidents, and is caused by lesions between the occipital area and the angular gyrus. (12 Jul 2000) |
| Parinaud's oculoglandular syndrome | <syndrome> Unilateral conjunctival granuloma with preauricular adenopathy in tularaemia, chancre, and tuberculosis. (05 Mar 2000) |
| Parinaud's syndrome | <syndrome> Paralysis of conjugate upward gaze with a lesion at the level of the superior colliculi; Bell's phenomenon is present. Synonym: Parinaud's ophthalmoplegia. (05 Mar 2000) |
| parinaud syndrome | <radiology> Paralysis of upward gaze, also known as: supranuclear palsy, compression of tectal (quadrigeminal) plate, by pineal mass (12 Dec 1998) |
| massive bowel resection syndrome | <syndrome> Malabsorption following extensive resection of the bowel, particularly the small intestine, characterised by diarrhoea, steatorrhoea, hypoproteinaemia, and malnutrition. (05 Mar 2000) |