| ATRX, ATR-X | X-linked alpha-thalassemia mental retardation [syndrome] |
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| CAHMR | cataract-hypertrichosis-mental retardation [syndrome] |
| CROME | congenital cataracts-epileptic fits-mental retardation [syndrome] |
| CVG/MR | cutis verticis gyrata/mental retardation [syndrome] |
| DOOR | deafness, onycho-osteodystrophy, mental retardation [syndrome] |
| 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) |
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| 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) |
| Boerhaave's syndrome | <syndrome> Named after Captain Boerhaave, a Dutch ship captain, who was the first patient this condition was described in. Traumatic rupture of the lower oesophagus can occur with significant blunt chest trauma, during CPR or in some conditions of forceful protracted vomiting. This condition is much more common in the patient with a pre-existing oesophageal disease such as reflux oesophagitis. The chest X-ray will typically show an abnormal left cardiac border with free fluid within the left hemithorax (pleural effusion). Patients will experience immediate chest pain, which may radiate to the neck, accompanied by shock, sepsis and death within 48 hours if untreated. (27 Sep 1997) |
| boerhaave syndrome | <radiology> Complete, transmural laceration of oesophagus, aetiology: spontaneous (retching, EtOH), secondary to endoscopy, trauma, vagotomy, FB, symptoms: chest pain, shock, dyspnea, cyanosis, grave prognosis, M more than F, usually on left, uncommonly sub-diaphragmatic see also: oesophageal trauma, V sign of Naclerio (12 Dec 1998) |
| Bonnevie-Ullrich syndrome | <syndrome> A rare genetic disorder in women that is characterised by the absence of an X chromosome. This disorder inhibits normal sexual development and causes infertility. Features include webbing of the neck, short stature, retarded development of secondary sex characteristics, absence of menses, coarctation of the aorta, low hairline, eye abnormalities (drooping eyelids) and skeletal deformities. Treatment include oestrogen supplementation at puberty. Growth hormone replacement may be necessary in some cases. Cardiac surgery may be necessary to correct coarctation of the aorta. Incidence: 1 in 3000 births. (27 Sep 1997) |
| Bonnier's syndrome | <syndrome> A syndrome due to a lesion of Deiters nucleus and its connection; the symptoms include ocular disturbances (e.g., paralysis of accommodation, nystagmus, diplopia), as well as deafness, nausea, thirst, anorexia, and symptoms referable to the involvement of the vagus centres. (05 Mar 2000) |
| Book syndrome | <syndrome> Premolar aplasia, hyperhidrosis, and premature canities; autosomal dominant trait. (05 Mar 2000) |
| Borjeson-Forssman-Lehmann syndrome | <syndrome> A condition characterised by mental deficiency, epilepsy, hypogonadism, hypometabolism, obesity, and narrow palpebral fissures; X-linked recessive inheritance. (05 Mar 2000) |
| bowel bypass syndrome | <syndrome> Fever, chills, malaise, and inflammatory cutaneous papules and pustules on the extremities and upper trunk, sometimes with polyarthralgia, with recurrent symptoms following bowel bypass surgery. (05 Mar 2000) |
| bradytachycardia syndrome | <syndrome> Alternate rapid and slow cardiac rates that may represent any rhythm disturbances in any combination usually related to sinus node disease. Synonym: tachybradycardia syndrome. (05 Mar 2000) |
| branchio-oto-renal syndrome | <syndrome> An autosomal dominant disorder manifested by various combinations of preauricular pits, branchial fistulae or cysts, lacrimal duct stenosis, hearing loss, structural defects of the outer, middle, or inner ear, and renal dysplasia. Associated defects include asthenic habitus, long narrow facies, constricted palate, deep overbite, and myopia. Hearing loss may be due to mondini type cochlear defect and stapes fixation. (12 Dec 1998) |
| Briquet's syndrome | <syndrome> A chronic but fluctuating mental disorder, usually of young women, characterised by frequent complaints of physical illness involving multiple organ systems simultaneously. (05 Mar 2000) |