| aglossia-adactylia syndrome | <syndrome> Congenital absence or hypoplasia of the tongue, associated with absence of the digits. (05 Mar 2000) |
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| Ahumada-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) |
| Aicardi's syndrome | <syndrome> Agenesis of the corpus collosum with infantile spasms in female babies. (05 Mar 2000) |
| alagille syndrome | <syndrome> Hypoplasia of the hepatic ducts, congenital pulmonary artery stenosis, facial abnormalities, and other congenital malformations, particularly skeletal. It is often presented as jaundice during the neonatal period. It is an autosomal recessive disease generally manifesting during childhood. "arteriohepatic" refers to the pulmonary artery and the intrahepatic bile ducts, not to the hepatic artery. (12 Dec 1998) |
| Albright's syndrome | <syndrome> A condition of cystic bone growth that results from abnormal bone development. May occur with bone lesions, skin pigmentation and endocrine abnormalities. See: McCune-Albright syndrome. (27 Sep 1997) |
| alcohol amnestic syndrome | <syndrome> An amnestic syndrome resulting from alcoholism; alcoholic "blackouts." Cf.: Korsakoff's syndrome. (05 Mar 2000) |
| 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) |
| 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) |