| FMD | Fibro-Muscular Dysplasia |
|---|---|
| MURCS Associations | MUllerian duct aplasia, Renal aplasia, Cervico-thoracic vertebral(Somite) dysplasia Associations |
| VATER Associations | Vertebral defects Anal atresia Tracheo-Esophageal fistula ... |
| AHD | acquired hepatocerebral degeneration; acute heart disease; antihyaluronidase; antihypertensive drug;... |
| AMD | acid maltase deficiency; acromandibular dysplasia; actinomycin D; adrenomyelodystrophy; age-related ... |
| bernard syndrome | <syndrome> A complex of abnormal findings, namely sinking in of one eyeball, ipsilateral ptosis (drooping of the upper eyelid on the same side) and miosis (constriction of the pupil of that eye) together with anhidosis (lack of sweating) and flushing of the affected side of the face. Due to paralysis of certain nerves (specifically, the cervical sympathetic nerves). Also called Horner-Bernard syndrome, Bernard-Horner syndrome and Horner's ptosis, but best known today as Horner syndrome. (12 Dec 1998) |
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| Bernhardt-Roth syndrome | <symptom> A tingling, formication, itching, and other forms of paresthesia in the outer side of the lower part of the thigh in the area of distribution of the lateral femoral cutaneous nerve; there may be pain, but the skin is usually hypesthetic to the touch. Synonym: Bernhardt's disease, Bernhardt-Roth syndrome, Roth's disease, Roth-Bernhardt disease. (21 Sep 2000) |
| Bernheim's syndrome | <syndrome> Systemic congestion resembling the consequences of right heart failure (enlarged liver, distended neck veins, and oedema) without pulmonary congestion in subjects with left ventricular enlargement from any cause. A reduction in the size of the right ventricular cavity is found by contrast imaging or echocardiography or at postmortem due to encroachment by the hypertrophied or aneurysmal ventricular septum. (14 Aug 2000) |
| Besnier-Boeck-Schaumann syndrome | <disease> Disease of unknown aetiology in which there are chronic inflammatory granulomatous lesions in lymph nodes and other organs. (18 Nov 1997) |
| Beuren syndrome | <syndrome> Supravalvular aortic stenosis with multiple areas of peripheral pulmonary arterial stenosis, mental retardation, and dental anomalies. (05 Mar 2000) |
| Biemond syndrome | <syndrome> Iris coloboma, mental retardation, obesity, hypogenitalism, and postaxial polydactyly; a recessive inheritance disorder resembling Laurence-Moon and Bardet-Biedel syndrome's. (05 Mar 2000) |
| billowing mitral valve syndrome | <syndrome> The clinical constellation of findings with or without symptoms due to prolapse of the mitral valve: a nonejection systolic click accentuated in the standing posture, sometimes multiple, sometimes with mitral regurgitation occurring relatively late in systole, and accompanied by echocardiographic evidence of the mitral valve prolapse, usually with thickened leaflets of the valve. Symptoms are non-specific and may include vague chest pains and dyspnea on exertion. Synonym: billowing mitral valve syndrome. (05 Mar 2000) |
| Bjornstad's syndrome | <syndrome> Pili torti associated with sensorineural hearing loss, the severity of distortion and brittleness of the hair correlated with the degree of deafness; autosomal dominant inheritance. (05 Mar 2000) |
| Blatin's syndrome | The peculiar trembling or vibratory sensation felt on palpation of a hydatid cyst. Synonym: Blatin's syndrome, hydatid fremitus. (05 Mar 2000) |
| blind loop syndrome | <syndrome> Malabsorption, especially of vitamin b12 or folic acid, due to metabolic competition by bacteria proliferating in a segment of small intestine excluded from normal peristaltic movement; it may occur as a postoperative complication of side-to-side anastomosis of intestine, as a result of intestinal diverticula, fistula, etc. (12 Dec 1998) |
| Bloch-Sulzberger syndrome | A genetic disease with blisters that develop soon after birth on the trunk and limbs, then heal, but leave dark (hyperpigmented) streaks and marble-like whorls on the skin. (the name came from the erroneous idea that the skin cells were incontinent of pigment and could not contain it normally.) other key features of ip include dental and nail abnormalities, bald patches, and (in about 1/3rd of cases) mental retardation. Ip is an x-linked dominant with male lethality. The ip gene is in band q28 on the x chromosome. Mothers with ip have an equal chance of having a normal or ip daughter or a normal son. The ip sons die before birth. Ip is also known as bloch-sulzberger syndrome. (12 Dec 1998) |
| Bloom's syndrome | <syndrome> Congenital telangiectatic erythema, primarily in butterfly distribution, of the face and occasionally of the hands and forearms, with sensitivity of skin lesions and dwarfism with normal body proportions except for a narrow face and dolichocephalic skull; chromosomes are excessively fragile; autosomal recessive inheritance. (05 Mar 2000) |
| bloom syndrome | <syndrome> An autosomal recessive disorder characterised by telangiectatic erythema of the face, photosensitivity, dwarfism, and other abnormalities. (12 Dec 1998) |
| blue rubber bleb nevus syndrome | <radiology> Bean syndrome, sporadic (some autosomal dominant), rubbery, raised blue-black skin nevi (cavernous haemangiomata, 0.1 - 5 cm), GI mucosal haemangiomata, bowel: polypoid filling defects of varying sizes, visceral haemangiomata (by angio) associated with: leukaemia, medulloblastoma, hypernephroma, Mafucci syndrome More info: blue rubber bleb nevus syndrome (12 Dec 1998) |
| blue toe syndrome | <syndrome> Atherothrombotic microembolism of the lower extremities due to recurrent cholesterol embolic 'showers' with painful cyanotic discoloration of the toes and embolism to other sites that completely resolve between attacks. Despite the gangrene-like appearance, blue toes may respond to conservative therapy without amputation. (12 Dec 1998) |