| MASS syndrome | <syndrome> A syndrome closely resembling both the Marfan's syndrome and the Barlow syndrome. However, no dislocation of the lenses or aneurysmal changes occur in the aorta, and the mitral valve prolapse is by no means invariable. at present it has been assigned no separate OMIM number, but shares that of the Barlow syndrome. Origin: mitral valve prolapse, aortic anomalies, skeletal changes, and skin changes. (05 Mar 2000) |
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| Gianotti-Crosti syndrome | <syndrome> A cutaneous manifestation of hepatitis B infection occurring in young children; an exanthem comprised of dusky papules on the legs, buttocks, and extensors of the arms; it lasts 2 to 8 weeks and is associated with adenopathy and malaise. Synonym: papular acrodermatitis of childhood. (05 Mar 2000) |
| Gilbert's syndrome | <syndrome> An inherited disorder that affects the way bilirubin in handled by the liver. Thought to be due to an inborn error of bilirubin metabolism. Symptoms include mild jaundice, weakness, fatigue, nausea and abdominal pain. (27 Sep 1997) |
| maternal deprivation syndrome | <syndrome> A failure to thrive seen in infants and young children and exhibited as a constellation of physical signs, symptoms, and behaviours, usually associated with maternal loss, absence or neglect, and characterised by lack of responsiveness to the environment and often depression. (05 Mar 2000) |
| Gilles de la Tourette's syndrome | <syndrome> Both multiple motor and one or more vocal tics present with tics occurring many times a day, nearly daily, over a period of more than one year. The onset is before age 18 and the disturbance is not due to direct physiological effects of a substance or a general medical condition. The disturbance causes marked distress or significant impairment in social, occupational, or other important areas of functioning. (dsm-IV, 1994) (12 Dec 1998) |
| cataract-oligophrenia syndrome | <syndrome> A rare neurologic disorder characterised by cerebellolental degeneration with mental retardation; autosomal recessive inheritance. Synonym: cataract-oligophrenia syndrome, Marinesco-Sjogren syndrome, Torsten Sjogren's syndrome. (05 Mar 2000) |
| Parsonage-Turner syndrome | A neurological disorder, of unknown cause, characterised by the sudden onset of severe pain, usually about the shoulder and often beginning at night, soon followed by weakness and wasting of various forequarter muscles, particularly shoulder girdle muscles; both sporadic and familial in occurrence with the former much more common; often preceded by some antecedent event, such as an upper respiratory infection, hospitalization, vaccination, or non-specific trauma; usually attributed to a brachial plexus lesion, because the nerve fibres involed are most often derived from the upper trunk, but actually multiple proximal mononeuropathies. Synonym: acute brachial radiculitis, brachial plexitis, brachial plexus neuropathy, Parsonage-Turner syndrome, shoulder-girdle syndrome. (05 Mar 2000) |
| Refetoff syndrome | <syndrome> A condition characterised by goiter and elevated serum level of thyroid hormones without manifestations of thyrotoxicosis, due to target organ unresponsiveness to thyroid hormones. (05 Mar 2000) |
| vibration syndrome | <syndrome> Tingling, numbness, and blanching of the fingers resulting from use of hand-held vibration tools; may persist without further exposure to vibration. (05 Mar 2000) |
| Mauriac's syndrome | <syndrome> Dwarfism with obesity and hepatosplenomegaly in children with poorly controlled diabetes mellitus. (05 Mar 2000) |
| reflex sympathetic dystrophy syndrome | <syndrome> A condition that features a group of typical symptoms, including pain (often burning type), tenderness, and swelling of an extremity associated with varying degrees of sweating, warmth and/or coolness, flushing, discoloration, and shiny skin. (12 Dec 1998) |
| cat's cry syndrome | <paediatrics, syndrome> A congenital human syndrome caused by the loss of part of the short arm of Chromosome 5. The syndrome gets its name from the peculiar cry of afflicted infants, which sounds like the meowing of a cat. The syndrome causes severe retardation and various congenital malformations. (09 Oct 1997) |
| cat's-eye syndrome | <syndrome> Iris colobomas (resembling the vertical pupils of a cat) and anal atresia, associated with an additional acrocentric chromosome; other malformations and mental retardation may be present. Synonym: Schmid-Fraccaro syndrome. (05 Mar 2000) |
| Refsum's syndrome | A genetic disorder of the fatty acid phytanic acid which accumulates and causes a number of progressive problems including polyneuritis (inflammation of numerous nerves), diminishing vision (due to retinitis pigmentosa), and wobbliness (ataxia) caused by damage to the cerebellar portion of the brain (cerebellar ataxia). (12 Dec 1998) |
| Mayer-Rokitansky-Kuster-Hauser syndrome | <syndrome> Primary amenorrhoea, absence of vagina, or presence of a short vaginal pouch, and absence of the uterus with normal karyotype and ovaries. Synonym: Rokitansky-Kuster-Hauser syndrome. (05 Mar 2000) |