| mallory-weiss syndrome | <syndrome> Mucosal gastric tear, only 10% are purely oesophageal: most are at GE junction or proximal stomach, M greater than F, associated with retching, EtOH, massive haematemesis, abdominal pain, Diagnosis: endoscopy, Treatment: IA vasopressin see: oesophageal trauma (12 Dec 1998) |
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| velo-cardio-facial syndrome | <syndrome> Also known as shprintzen syndrome, this more than is a congenital malformation (birth defect) syndrome with cleft palate, heart defect, abnormal face, and learning problems. The condition is therefore called the velo-cardio-facial (vcf) syndrome. (the velum is the soft palate). Other less frequent features include short stature, small-than-normal head (microcephaly), mental retardation, minor ear anomalies, slender hands and digits, and inguinal hernia. The cause is usually a microdeletion in chromosome band 22q11.2, just as in digeorge syndrome. Vcf and digeorge syndromes are different clinical expressions of essentially the same chromosome defect. Of essentially the same chromosome defect. (12 Dec 1998) |
| papillary muscle syndrome | Impaired function of a papillary muscle, usually due to ischemia or infarction, with resulting incompetence of the mitral valve. Synonym: papillary muscle syndrome. (05 Mar 2000) |
| gay bowel syndrome | <syndrome> Gastrointestinal discomfort experienced by homosexual males; includes abdominal pain, cramps, bloating, flatulence, nausea, vomiting, or diarrhoea caused by enteric bacteria, viruses, fungi, zooparasites, or trauma. (05 Mar 2000) |
| Papillon-Leage and Psaume syndrome | <syndrome> An inherited syndrome, lethal in males, with varying combinations of defects of the oral cavity, face, and hands, including lobulated or bifid tongue, cleft or pseudocleft palate, tongue tumours, missing or malpositioned teeth, hypoplastic nasal alar cartilage, depressed nasal bridge, brachydactyly, clinodactyly, incomplete syndactyly, and, frequently, mental retardation. There are two subtypes recognised. Type I (papillon-leage and psaume syndrome, gorlin-psaume syndrome) is inherited as an x-linked dominant trait and is found only in females and XXY males. Type II (mohr syndrome) is inherited as an autosomal recessive trait. Inheritance: autosomal recessive and X-linked. Synonym: OFD syndrome, orofaciodigital syndrome, Papillon-Leage and Psaume syndrome. (05 Mar 2000) |
| Papillon-Lefevre syndrome | <syndrome> A rare congenital hyperkeratosis of the palms and soles (palmoplantar keratoderma), with progessive destruction of the alveolar bone of both the deciduous and permanent teeth. It occurs between the first and fifth years of life and has autosomal recessive inheritance. Inheritance: autosomal recessive. (05 Mar 2000) |
| Gelineau's syndrome | <neurology> A disorder of sleep associated with excessive daytime sleepiness, involuntary daytime sleep episodes, disturbed nocturnal sleep and cataplexy. Narcolepsy affects over 100,000 people in the United States and appears to have a genetic basis. Symptoms usually begin in the patients twenties. Treatment often includes the use of amphetamines and-or tricyclic antidepressants. (27 Sep 1997) |
| mandibulofacial dysotosis syndrome | A hereditary disorder occurring in two forms: the complete form (franceschetti's syndrome) is characterised by antimongoloid slant of the palpebral fissures, coloboma of the lower lid, micrognathia and hypoplasia of the zygomatic arches, and microtia. It is transmitted as an autosomal trait. The incomplete form (treacher collins syndrome) is characterised by the same anomalies in less pronounced degree. It occurs sporadically, but an autosomal dominant mode of transmission is suspected. (12 Dec 1998) |
| mandibulo-oculofacial syndrome | A syndrome of bony anomalies of the calvaria, face, and jaw, with brachygnathia, narrow curved nose, and multiple ocular defects including microphthalmia, microcornea, and cataract, often with alopecia overlying skull sutures, or alopecia areata and hypoplasia, or absence of eyebrows. The pattern of inheritance is undecided. Synonym: congenital sutural alopecia, Hallermann-Streiff syndrome, Hallermann-Streiff-Francois syndrome, mandibulo-oculofacial syndrome, oculomandibulodyscephaly, oculomandibulofacial syndrome, progeria with cataract, progeria with microphthalmia. (05 Mar 2000) |
| gender dysphoria syndrome | <syndrome> A syndrome in which an individual experiences marked personal stress due to feelings that despite having the genitalia and secondary sexual characteristics of one gender there is a sense of compatibility and greater belonging to the other gender class; one may undergo surgery to reconstruct anatomy to that of the other gender. (05 Mar 2000) |
| general adaptation syndrome | <syndrome> The sum of all non-specific systemic reactions of the body to long-continued exposure to systemic stress. (12 Dec 1998) |
| Raynaud's syndrome | <syndrome> Idiopathic paroxysmal bilateral cyanosis of the digits due to arterial and arteriolar contraction; caused by cold or emotion. See: Raynaud's phenomenon. Synonym: Raynaud's disease, symmetric asphyxia. (05 Mar 2000) |
| Maranon's syndrome | <syndrome> A syndrome characterised by ovarian insufficiency, scoliosis, and flat-feet. (05 Mar 2000) |
| paraneoplastic syndrome | <oncology, syndrome> A collection of symptoms or clinical signs that are found in patients that have malignant disease. By definition, the signs and symptoms are not produced by a direct effect of a tumour or its metastasis nor due to direct invasion, compression, metastasis, infection, nutritional deficiency or treatment of the underlying neoplasm. Paraneoplastic syndromes can arise from tumour produced biologically active polypeptides or proteins, autoimmunity or immune complex production and immune suppression, blockade of the normal effect of a hormone, the release of substances from tumour associated endothelium which are not normally released and finally unknown causes. The best characterised paraneoplastic syndrome is the syndrome of inappropriate ADH. (15 Dec 1997) |
| Marchiafava-Micheli syndrome | An infrequent disorder with insidious onset (usually in the third or fourth decade) and chronic course, characterised by episodes of haemolytic anaemia, haemoglobinuria (chiefly at night), pallor, icterus or bronzing of the skin, a moderate degree of splenomegaly, and sometimes hepatomegaly; red blood cells are usually macrocytic and vary considerably in size, but there is no evidence of spherocytosis, erythrophagocytosis, or abnormal leukocytes. The disorder is a result of an abnormality of the red cell membrane which makes the red cell unusually sensitive to lysis by complement. Synonym: Marchiafava-Micheli anaemia, Marchiafava-Micheli syndrome. (05 Mar 2000) |