| 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) |
| cauda equina syndrome | <syndrome> A clinical syndrome characterised by dull pain in the lower back and upper buttock region, analgesia in the buttocks, genitalia (or thigh), accompanied by a disturbance of bowel and bladder function. (27 Sep 1997) |
| May-White syndrome | <syndrome> Progressive myoclonus epilepsy with lipomas, deafness, and ataxia; probably a familial form of mitochondrial encephalomyopathy. (05 Mar 2000) |
| McArdle's syndrome | Glycogenosis due to muscle glycogen phosphorylase deficiency, resulting in accumulation of glycogen of normal chemical structure in muscle. Synonym: McArdle's disease, McArdle's syndrome, McArdle-Schmid-Pearson disease, myophosphorylase deficiency glycogenosis. (05 Mar 2000) |
| McCune-Albright syndrome | <syndrome> The abnormal development of multiple bones, hormonal disorder and brownish skin lesions. (27 Sep 1997) |
| cavernous sinus syndrome | <syndrome> This condition is characterised by oedema of the eyelids and conjunctivae and paralysis of the third, fourth and sixth cranial nerves. It is due to a cavernous sinus thrombosis. (27 Sep 1997) |
| Meadows' syndrome | <syndrome> Cardiomyopathy developing during pregnancy or the puerperium. (05 Mar 2000) |
| Patau's syndrome | <embryology, paediatrics, syndrome> A congenital disorder caused by a person having an extra (three copies of) chromosome 13, this disorder causes severe eye, brain and heart defects and is also characterised by a cleft lip and cleft palate. See: trisomy 13 syndrome (09 Oct 1997) |
| Reifenstein's syndrome | <syndrome> Partial androgen sensitivity; a familial form of male pseudohermaphroditism characterised by varying degrees of ambiguous genitalia or hypospadias, postpubertal development of gynaecomastia, and infertility associated with seminiferous tubular sclerosis; cryptorchidism may be present, and Leydig cell hypofunction may lead to impotence in later years; chromosomal studies are usually normal; X-linked recessive or autosomal dominant male-linked trait. (05 Mar 2000) |
| Paterson-Brown-Kelly syndrome | <syndrome> Limited elevation of the eye in adduction, appearing clinically as a paresis of the inferior oblique muscle, due to fascia contracting the superior oblique muscle on the same side. Synonym: Brown's syndrome, Paterson-Brown-Kelly syndrome. (05 Mar 2000) |
| Paterson-Kelly syndrome | <radiology> Iron-deficiency anaemia, oesophageal webs (symptomatic), glossitis, spoon nails, middle-aged females, increased incidence of oesophageal carcinoma, see also: oesophageal webs and rings aka: Patterson-Kelly syndrome (12 Dec 1998) |