| IDDM-MED | insulin-dependent diabetes mellitus-multiple epiphyseal dysplasia [syndrome] |
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| MED-IDDM | multiple epiphyseal dysplasia-insulin dependent diabetes mellitus [syndrome] |
| MRSD | mental retardation-skeletal dysplasia [syndrome] |
| RL | radial line; radiation laboratory; reduction level; renal dysplasia-limb defects [syndrome]; resisti... |
| TKCR | torticollis-keloids-cryptorchidism-renal dysplasia [syndrome] |
chromate
| Aldrich syndrome | <syndrome> An sex-linked (X chromosome) genetic disorder occurring in male children that is characterised by thrombocytopenia, eczema, melena and susceptibility to bacterial infections. Death often occurs from severe haemorrhage or overwhelming sepsis. Inheritance: sex-linked (X chromosome). (27 Sep 1997) |
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| Alezzandrini's syndrome | <syndrome> A rare syndrome appearing in adolescents and young adults, characterised by unilateral degenerative retinitis, followed by ipsilateral poliosis and facial vitiligo, and occasionally bilateral perceptive deafness. (05 Mar 2000) |
| Alice in Wonderland syndrome | <syndrome> The illusion of dreams, feelings of levitation, and alteration in the sense of the passage of time, sometimes associated with migraine, epilepsy, and various diseases of the parietal lobe of the brain. (05 Mar 2000) |
| Allen-Masters syndrome | <syndrome> Pelvic pain resulting from an old laceration of the broad ligament received during delivery. (05 Mar 2000) |
| Alpert syndrome | <syndrome> 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. (27 Sep 1997) |
| Alport's syndrome | <syndrome> Progressive microscopic haematuria leading to chronic renal failure earlier in males, accompanied by defects such as sensorineural hearing loss, lenticonus, and maculopathy; autosomal dominant, autosomal recessive, and X-linked forms known. (05 Mar 2000) |
| Alport syndrome | <syndrome> An uncommon inherited disorder involving damage to the kidneys, haematuria and hearing loss. In some individuals vision may also be affected. Symptoms include loss of hearing, abnormal colour to urine, swelling, cough and decline in vision. Incidence: 1 in 50,000. Inheritance: sex-linked autosomal dominant. (15 Nov 1997) |
| Alstrom's syndrome | <syndrome> Retinal degeneration with nystagmus and loss of central vision, associated with obesity in childhood; sensorineural hearing loss and diabetes mellitus usually occur after age 10; autosomal recessive inheritance. (05 Mar 2000) |
| amenorrhoea-galactorrhoea syndrome | <syndrome> Unphysiologic lactation from endocrinological causes or from a pituitary tumour. (05 Mar 2000) |
| amnestic syndrome | <syndrome> May occur as a sequel to chronic alcohol abuse. Features include personality changes, confabulation, psychosis, disorientation, polyneuritis, insomnia and hallucinations. (27 Sep 1997) |
| amniotic band syndrome | <syndrome> A disorder present in the newborn infant in which constriction rings or bands, causing soft tissue depressions, encircle digits, extremities, or limbs and sometimes the neck, thorax, or abdomen. They may be associated with intrauterine amputations. (12 Dec 1998) |
| amniotic fluid syndrome | <syndrome> Pulmonary embolic phenomena thought to be due to infusion of amniotic fluid containing epithelial squames into maternal blood vessels; shock ensues and sudden death may occur. (05 Mar 2000) |
| Amsterdam syndrome | <syndrome> A congenital anomaly characterised by impaired development, mental retardation, characteristic facies with snyophrys and hairline well down on forehead, depressed bridge of nose with uptilted tip of nose, small head with low-set ears, and flat spadelike hands with simian crease and short tapering fingers. Synonym: Amsterdam syndrome, Cornelia de Lange syndrome. (05 Mar 2000) |
| androgenital syndrome | <syndrome> A genetic disorder present at birth characterised by a deficiency of the hormones aldosterone and cortisol and an overproduction of male sex hormones (androgens). In males this may manifest as enlarged penis, small testes and early development of masculine characteristics. In females features include ambiguous genitalia, failure to menstruate, deep voice and excessive hair. (27 Sep 1997) |
| angelman syndrome | <syndrome> A dysmorphic mental retardation syndrome, that has generated considerable interest in human genetics as a prototypic example of genomic imprinting in man. Usually a sporadic disorder, it is characterised by profound intellectual deficiency, a striking puppet-like ataxic gait and facial features, paroxysmal laughter and seizures. These features are responsible for its alternative designation as happy puppet syndrome. An interstitial deletion at chromosome band 15q12 was identified and can be detected in a large proportion of cases and the defect is linked to the GABA receptor gene. Chromosome haplotyping will always reveal the deletion to be carried on the maternally-derived chromosome 15, alternatively, Angelman syndrome can be caused by uniparental disomy for the paternal chromosome 15. In both cases, this suggests that Angelman syndrome results from loss or disruption of a gene (or genes) on chromosome 15 that must be inherited through the maternal gamete in order to be properly expressed. The opposite phenomenon is seen in the Prader-Willi syndrome, in which a deletion of a nearby region on chromosome 15q is found on the paternally-derived chromosome, or there can be uniparental disomy for the maternally derived chromosome. Thus, both disorders seem to represent examples of genes which are subject to imprinting. (16 Dec 1997) |