See also entries under disease. Aarskog syndrome , Aarskog- Scott syndrome a hereditary X- linked condition characterized by ocular hypertelorism, anteverted nostrils, broad upper lip, peculiar scrotal “shawl” above the penis, and small hands. Diagnosis is by the presence of a disease indicative of a defect in cell- mediated immunity (e. Q wave infarction. ARDS) fulminant pulmonary interstitial and alveolar edema, which usually develops within a few days after the initiating trauma, thought to result from alveolar injury that has led to increased capillary permeability. Adams- Stokes syndrome episodic cardiac arrest and syncope due to failure of normal and escape pacemakers, with or without ventricular fibrillation; the principal manifestation of severe heart attack. Addison's disease, under disease. Adie's syndrome tonic pupil associated with absence or diminution of certain tendon reflexes. Ahumada- del Castillo syndrome galactorrhea- amenorrhea syndrome with low gonadotropin secretion. Alagille syndrome inherited neonatal jaundice, cholestasis with peripheral pulmonic stenosis, unusual facies, and ocular, vertebral, and nervous system abnormalities, due to paucity or absence of intrahepatic bile ducts. Albright's syndrome , Albright- Mc. Cune- Sternberg syndrome polyostotic fibrous dysplasia, patchy dermal pigmentation, and endocrine dysfunction. Allgrove's syndrome inherited glucocorticoid deficiency with achalasia and alacrima. Alport's syndrome a hereditary disorder marked by progressive nerve deafness, progressive pyelonephritis or glomerulonephritis, and occasionally ocular defects. Alstr. Symptoms are caused by tumor secretion of serotonin, prostaglandins, and other biologically active substances. Median nerve entrapped in carpal tunnel in carpal tunnel syndrome. Carpenter's syndrome acrocephalopolysyndactyly, type II; an autosomal recessive disorder characterized by acrocephaly, polysyndactyly, brachydactyly, mild obesity, mental retardation, hypogonadism, and other anomalies. Cestan's syndrome , Cestan- Chenais syndrome an association of contralateral hemiplegia, contralateral hemianesthesia, ipsilateral lateropulsion and hemiasynergia, Horner's syndrome, and ipsilateral laryngoplegia, due to scattered lesions of the pyramid, sensory tract, inferior cerebellar peduncle, nucleus ambiguus, and oculopupillary center. Ch. The symptoms may include adiposity of the face, neck, and trunk, kyphosis caused by softening of the spine, amenorrhea, hypertrichosis (in females), impotence (in males), dusky complexion with purple markings, hypertension, polycythemia, pain in the abdomen and back, and muscular weakness. Dandy- Walker syndrome congenital hydrocephalus due to obstruction of the foramina of Magendie and Luschka. Lange's syndrome a congenital syndrome of mental retardation, short stature (Amsterdam dwarf), flat spadelike hands, and other anomalies. Down syndrome mongoloid features, short phalanges, widened space between the first and second toes and fingers, and moderate to severe mental retardation; associated with a chromosomal abnormality, usually trisomy of chromosome 2. ![]() Drash syndrome an inherited syndrome of Wilms' tumor with glomerulopathy and male pseudohermaphroditism. Dubin- Johnson syndrome hereditary chronic nonhemolytic jaundice thought to be due to defective excretion of conjugated bilirubin and certain other organic anions by the liver; a brown, coarsely granular pigment in hepatic cells is pathognomonic. Eaton- Lambert syndrome a myasthenia- like syndrome in which the weakness usually affects the limbs and ocular and bulbar muscles are spared; often associated with oat- cell carcinoma of the lung. EEC syndrome ectrodactyly–ectodermal dysplasia–clefting s.; an inherited congenital syndrome involving both ectodermal and mesodermal tissues, characterized by ectodermal dysplasia with hypopigmentation of skin and hair, and other hair, nail, tooth, lip, and palate abnormalities. Ehlers- Danlos syndrome a group of inherited disorders of connective tissue, varying in clinical and biochemical evidence, in mode of inheritance, and in severity from mild to lethal; major manifestations include hyperextensible skin and joints, easy bruisability, friability of tissues, bleeding, poor wound healing, subcutaneous nodules, and cardiovascular, orthopedic, intestinal, and ocular defects. Eisenmenger's syndrome ventricular septal defect with pulmonary hypertension and cyanosis due to right- to- left (reversed) shunt of blood. ![]() Sometimes defined as pulmonary hypertension (pulmonary vascular disease) and cyanosis with the shunt being at the atrial, ventricular, or great vessel area. Fanconi syndrome 1. Symptoms vary from mild to the often fatal outcome of eosinophilic leukemia. SIADH) persistent hyponatremia, inappropriately elevated urine osmolality, caused by release of vasopressin (antidiuretic hormone) without discernible stimulus. Isaacs' syndrome , Isaacs- Mertens syndrome progressive muscle stiffness and spasms, with continuous muscle fiber activity similar to that seen with neuromyotonia. Jacod's syndrome chronic arthritis after rheumatic fever, with fibrous changes in the joint capsules leading to deformities that may resemble rheumatoid arthritis but lack bone erosion. Jarcho- Levin syndrome an inherited disorder of multiple vertebral defects, short thorax, rib abnormalities, camptodactyly, syndactyly, and sometimes urogenital abnormalities, usually fatal in infancy. Joubert's syndrome inherited, usually fatal, partial to complete agenesis of the cerebellar vermis, with hypotonia, episodic hyperpnea, mental retardation, and abnormal eye movements. Kartagener's syndrome a hereditary syndrome consisting of dextrocardia, bronchiectasis, and sinusitis. Kimmelstiel- Wilson syndrome intercapillary glomerulosclerosis in which the lesions are nodular. ![]() ![]() King syndrome a form of malignant hyperthermia accompanied by characteristic physical abnormalities. Klinefelter's syndrome smallness of testes with fibrosis and hyalinization of seminiferous tubules, variable degrees of masculinization, azoospermia, and infertility, and increased urinary gonadotropins. It is associated typically with an XXY chromosome complement although variants include XXYY, XXXY, XXXXY, and various mosaic patterns. Klippel- Feil syndrome shortness of the neck due to reduction in the number of cervical vertebrae or the fusion of multiple hemivertebrae into one osseous mass, with limitation of neck motion and low hairline. Korsakoff's syndrome a syndrome of anterograde and retrograde amnesia with confabulation associated with alcoholic or nonalcoholic polyneuritis, currently used synonymously with the term amnestic syndrome or, more narrowly, to refer to the amnestic component of the Wernicke- Korsakoff syndrome. Kugelberg- Welander syndrome an inherited juvenile form of muscular atrophy due to lesions on the anterior horns of the spinal cord, beginning with the proximal muscles of the lower limbs and pelvic girdle and progressing to the distal muscles. LAMB syndrome a syndrome of familial myomas with cutaneous, cardiac, and endocrine involvement, manifested as l entigines, a trial m yxoma, and b lue nevi. Landau- Kleffner syndrome an epileptic syndrome of childhood with partial or generalized seizures, psychomotor abnormalities, and aphasia progressing to mutism. Laurence- Moon syndrome an autosomal recessive disorder characterized by mental retardation, pigmentary retinopathy, hypogonadism, and spastic paraplegia. Lemieux- Neemeh syndrome an inherited syndrome of Charcot- Marie- Tooth disease with progressive deafness. Leriche syndrome lower limb fatigue on exercising, lack of femoral pulse, impotence, and often pale, cold lower limbs, usually seen in males due to obstruction of the terminal aorta. ![]() ![]() Lesch- Nyhan syndrome an X- linked disorder of purine metabolism with physical and mental retardation, compulsive self- mutilation of fingers and lips by biting, choreoathetosis, spastic cerebral palsy, and impaired renal function, and by extremely excessive purine synthesis and consequently hyperuricemia and excessive urinary secretion of uric acid. Li- Fraumeni syndrome a familial syndrome of early breast carcinoma associated with soft tissue sarcomas and other tumors. QT syndrome prolongation of the Q–T interval combined with torsades de pointes and manifest in several forms, either acquired or congenital, the latter with or without deafness; it may lead to serious arrhythmia and sudden death. Lown- Ganong- Levine syndrome a preexcitation syndrome of electrocardiographic abnormality characterized by a short P–R interval with a normal QRS complex, accompanied by atrial tachycardia. Lutembacher's syndrome atrial septal defect with mitral stenosis (usually rheumatic).
Maffucci's syndrome enchondromatosis with multiple cutaneous or visceral hemangiomas. Marfan syndrome a hereditary syndrome of abnormal length of limbs, especially fingers and toes, with subluxation of the lens, cardiovascular abnormalities, and other defects. Meckel's syndrome an autosomal recessive syndrome, with sloping forehead, posterior meningoencephalocele, polydactyly, polycystic kidneys, and death in the perinatal period. Meige syndrome 2. Cardiac, laryngotracheal, pulmonary, anal, and renal abnormalities may also be present. Type I, a male- lethal X- linked dominant disorder, is characterized by camptodactyly, polydactyly, and syndactyly; by cranial, facial, lingual, and dental anomalies; and by mental retardation, familial trembling, alopecia, and seborrhea of the face and milia; type II is Mohr s.; type III, an autosomal recessive disorder, characterized by postaxial hexadactyly, by ocular, lingual, and dental anomalies, and by profound mental retardation. See also under disorder. Ortner syndrome laryngeal paralysis associated with heart disease, due to compression of the recurrent laryngeal nerve between the aorta and a dilated pulmonary artery. Lactic acidosis occurs when lactic acid accumulates in the bloodstream. Learn more from WebMD about the symptoms, causes, and treatments for lactic acidosis. Photo Credit YanLev/iStock/Getty Images. Following a hyperinsulinism diet results in stabilized.
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