infobox disease Name Angelmansyndrome Image Caption DiseasesDB 712 ICD10 ICD10 Q 93 5 q 90 ICD9 ICD9 759.89 ICDO OMIM 105830 MeshID D017204 Angelmansyndrome AS is a neuro genetic disorder characterized ... pediatrician , Dr. Harry Angelman , who first described the syndrome in 1965. ref name Angelman cite ... of illnesses. The saga of Angelman s syndrome is one such story. It was purely by chance that nearly ... into a single group. Later the name was changed to Angelmansyndrome. This article was published ... informed facts about angelmansyndrome 7th edition harry angelman and the history of as title Harry ... publisher AngelmanSyndrome Foundation archiveurl http www.webcitation.org 5zoasuqeU archivedate 2011 ... JM, Pakula Z, MacGregor DL. year 1981 title The puppet like syndrome of Angelman journal Am J Dis ... Frias JL year 1982 title The Angelman happy puppet syndrome journal Am J Med Genet. volume 11 ..., Budden S, LaFranchi S. year 1987 title Is Angelmansyndrome an alternate result of del 15 q11q13 ? journal ... Prevalence Though the prevalence of Angelmansyndrome is not precisely known, there are some estimates ... in Angelmansyndrome a population based study journal Pediatr. Neurol. volume 14 issue 2 pages 131 6 ... K, Hansen LK, Wulff K title Clinical, cytogenetic, and molecular diagnosis of Angelmansyndrome estimated ... Pathophysiology File Angelman.PNG thumb Chromosome 15 Angelmansyndrome is caused by the loss of the normal ... for Angelmansyndrome, the maternal and paternal contribution express certain genes very differently ... allele is silenced. If the maternal contribution is lost or mutated, the result is Angelmansyndrome ... . It should be noted that the methylation test that is performed for Angelmansyndrome a defect in UBE3A ... syndrome and Angelmansyndrome journal Clin. Chem. volume 52 issue 6 pages 1005 13 year 2006 pmid 16574761 doi 10.1373 clinchem.2005.065086 ref Angelmansyndrome can also be the result of mutation ... have shed little light on the possible molecular mechanisms underlying Angelmansyndrome in humans ... more details
Infobox Person name Harry Angelman image image size caption birth name August 13 birth date 1915 birth place Birkenhead death date August 8, 1996 death place death cause colon tumour residence other names known for education employer occupation title salary networth height weight term predecessor successor party boards religion spouse Audrey partner children parents relatives signature website footnotes nationality United Kingdom British Harry Angelman 1915 August 8, 1996 was a United Kingdom British consultant paediatrician who identified AngelmanSyndrome . Biography Angelman was born in Birkenhead in 1915 and qualified in Liverpool. Angelman was an enthusiast for the language and country of Italy. He had observed three children who were unrelated but showed similar symptoms. He was in two ... and at first his 1965 paper described what he called puppet children . ref name Angelman cite journal doi 10.1111 j.1469 8749.1965.tb07844.x last Angelman first Harvey year 1965 title Puppet Children ... recognised as important but later similar children led to the idea being renamed AngelmanSyndrome . ref name bmj An American AngelmanSyndrome Support Group was started in Waterlooville , Hampshire in 1986. ref http munksroll.rcplondon.ac.uk Biography Details 106 Harry Angelman , Munks Roll, accessed September 2010 ref Angelman travelled to talk about his discovery and his work was mentioned as important by U.S. President Bill Clinton . Angelman died due to a colon tumour. ref name ... reflist UK med bio stub DEFAULTSORT Angelman, Harry Category 1915 births Category 1996 deaths Category People from Birkenhead Category British paediatricians Persondata NAME Angelman, Harry ALTERNATIVE NAMES SHORT DESCRIPTION identified AngelmanSyndrome DATE OF BIRTH 1915 PLACE OF BIRTH Birkenhead DATE OF DEATH August 8, 1996 PLACE OF DEATH de Harry Angelman fr Harry Angelman fi Harry Angelman sv Harry Angelman ... more details
Other uses In medicine and psychology , a syndrome is the association of several clinically recognizable features, sign medicine signs observed by someone other than the patient , symptom s reported by the patient ... in association. Some syndromes, such as Down syndrome , have only one cause others, such as Parkinsonian syndrome , have multiple possible causes. In other cases, the cause of the syndrome is unknown. The term syndrome derives from the Greek language Greek sundrom and means concurrence of symptoms ..., A Greek English Lexicon , on Perseus ref A familiar syndrome name often continues to be used even ... severe than a defined syndrome, but that nevertheless can be identified and related to the full blown syndrome. A culture bound syndrome is a set of symptoms where there is no evidence of an underlying ... and associated conditions The description of a syndrome usually includes a number of essential characteristics ... and minor findings typical of the syndrome, there may be an association with other conditions, meaning that in persons with the specified syndrome these associated conditions occur more frequently than would be expected by chance. While the syndrome and the associated conditions may be correlation .... An example would be Down syndrome , which has the associated condition of diabetes mellitus ... of the syndrome. Examples One recent case study is AIDS acquired immune deficiency syndrome ..., finally explaining the hitherto mysterious syndrome . Severe acute respiratory syndrome SARS severe acute respiratory syndrome is an even more recent example of a syndrome in medicine that was later ..., 980 1037 , in The Canon of Medicine , pioneered the idea of a syndrome in the diagnosis of specific ... 0 19 513580 6. ref Verify source date September 2010 The concept of a medical syndrome was further ... Toxidrome Withdrawal Withdrawal syndrome References Reflist External links Wiktionary syndrome ... ca S ndrome cs Syndrom de Syndrom et S ndroom es S ndrome eo Simptomaro eu Sindrome fa fr Syndrome ... more details
Unreferenced date May 2008 A contiguous gene syndrome is a syndrome caused by abnormalities of 2 or more gene s that are located next to each other on a chromosome . Prader Willi Syndrome , which is caused by the microdeletion of 15q11 13, is a common example. Prader Willi syndrome occurs when the deletion occurs on the paternal chromosome. If this deletion occurs on the maternal chromosome, it causes the Angelmansyndrome . 22q11.2 deletion syndrome is a particularly well known example. WAGR syndrome deletions of 11p13 is another example. Category Genetics med stub de Contiguous gene syndrome pl Zesp przyleg ych gen w Angelmansyndrome M.D. Roy and D. Schmickel. 1986 Contiguous gene syndromes A component of recognizable syndromes. J. Pediatr, 109 231 241. http www.sciencedirect.com science? ob ArticleURL& udi B6WKR 4M0CF8R 3& user 10& rdoc 1& fmt & orig search& sort d& docanchor &view c& searchStrId 1063080463& rerunOrigin google& acct C000050221& version 1& urlVersion 0& userid 10&md5 7be8e54caa5e88a573be86e197cdda23 ... more details
wiktionarypar SyndromeSyndrome may refer to Syndrome in medicine Syndrome decoding , in coding theory Syndrome The Incredibles , a fictional character Syndrome video game series disambig fr Syndrome homonymie ko it Sindrome disambigua nl Syndrome ja ru ... more details
Syndrome X may refer to Cardiac syndrome X Metabolic syndrome Single X syndrome, where an individual has a single X chromosome, typically described as Turner syndrome The otherwise unidentifiable rare disease afflicting Brooke Greenberg . disambiguation ... more details
Meadow s syndrome or Meadows syndrome can refer to Munchausen syndrome by proxy , named for Roy Meadow , who characterized it in 1977 Postpartum cardiomyopathy , named for William Meadows , who characterized it in 1957 disambig ... more details
Bouveret syndrome can refer to Bouveret Hoffmann syndrome, or paroxysmal tachycardia Bouveret s syndrome, or gastric outlet obstruction due to a gallstone disambig ... more details
of Angelmansyndrome , cerebral palsy and autism . Some argue Citation needed date September 2009 ...Infobox disease Name Rett Syndrome Image Caption DiseasesDB 29908 ICD10 ICD10 F 84 2 f 80 ICD9 ICD9 330.8 ICDO OMIM 312750 MedlinePlus MeshName Rett Syndrome MeshNumber C10.574.500.775 Rett syndrome is a neurodevelopmental ... syndrome ref that almost exclusively affects females. The clinical features include small hands and feet ... with Rett syndrome are prone to gastrointestinal disorders and up to 80 have seizures. ref http www.sciencedirect.com ... Onset in Rett Syndrome Le Jian et al ref They typically have no verbal skills, and about 50 ... as fragile X syndrome , tuberous sclerosis , or Down syndrome where one can see autistic features ... atrophy syndrome in hyperammonemia in childhood language German journal Wien Med Wochenschr volume ... Rett syndrome symbolized RTT is caused by mutations in the gene MECP2 located on the X chromosome ... Syndrome cases, mutations in the genes CDKL5 or FOXG1 have also been found to cause Rett Syndrome. Rett Syndrome is still diagnosed by a clinical observation, and in some very rare cases, no known mutated ... of Rett syndrome is a Mutation de novo mutation in the child. That is, it is not inherited from ... cases of Rett syndrome, it is thought that the mutated MECP2 is usually derived from the male copy ... 2 , MECP2 . ref http www.nature.com ng journal v23 n2 full ng1099 185.html Rett syndrome is caused ... is found near the end of the long arm of the X chromosome at Xq28. An atypical form of Rett syndrome ... encoding cyclin dependent kinase like 5 CDKL5 . Rett syndrome affects one in every 12,500 female ... in people with Rett syndrome ref cite journal pmid 2913929 doi 10.1002 ana.410250109 volume 25 issue 1 title Cerebrospinal fluid biogenic amines and biopterin in Rett syndrome year 1989 month January ... 2009 Biogenic Amines in Rett Syndrome The usual suspects Behav Genet http springerlink.com content b0j7t62714416536 ... SB year 2009 title Pathophysiology of Locus Ceruleus Neurons in a Mouse Model of Rett Syndrome ... more details
The Immunity Syndrome may refer to The Immunity Syndrome Space 1999 The Immunity Syndrome Space 1999 , a 1977 episode of Space 1999 The Immunity Syndrome Star Trek The Immunity Syndrome Star Trek , a 1968 second season episode of Star Trek The Original Series disambiguation ... more details
Steal syndrome may refer to Cardiac steal syndrome Subclavian steal syndrome , often associated with fainting, and typically due to atherosclerosis Vascular access steal syndrome , a problem related to a surgically created vascular access fistula for hemodialysis See also Steele Richardson Olszewski syndrome, alternative name for progressive supranuclear palsy Disambig ... more details
Overgrowth syndrome is a group of genetic disorders in which there is an abnormal increase in the size of the body or a body part that is often noted at birth . Examples of overgrowth syndromes include neurofibromatosis , Sotos syndrome , Beckwith Wiedemann syndrome , Simpson Golabi Behmel syndrome , Weaver syndrome , Proteus syndrome , Sturge Weber syndrome , and fragile X syndrome . Many of these syndromes increase the risk of cancer . See also Gigantism External links http www.cancer.gov Templates db alpha.aspx?CdrID 367429 Overgrowth syndrome entry in the public domain NCI Dictionary of Cancer Terms http bigheaded.org Macrocephalia is the is a condition in which there is an abnormally overgrown brain. NCI cancer dict Multiple abnormalities Category Growth disorders Category Human height Category Growth hormones Category Neuroendocrinology Category People with gigantism Category Size oncology stub ... more details
Bazex syndrome may refer to Bazex Dupr Christol syndrome Acrokeratosis paraneoplastica of Bazex disambig Category Conditions of the skin appendages Category Genodermatoses ... more details
HEC syndrome is a syndrome characterized by hydrocephalus , endocardial fibroelastosis and cataract s. References cite journal author Devi A, Eisenfeld L, Uphoff D, Greenstein R title New syndrome of hydrocephalus, endocardial fibroelastosis, and cataracts HEC syndrome . journal Am J Med Genet volume 56 issue 1 pages 62 6 year 1995 pmid 7747788 doi 10.1002 ajmg.1320560114 External links OMIM 600559 disease stub Category Syndromes ... more details
K nig s syndrome synonym ileocaecal valve syndrome is a syndrome of abdominal pain in relation to meals, constipation alternated with diarrhea , meteorism , gurgling sounds hyper peristalsis on auscultation especially in the right iliac fossa , and abdominal distension . It is caused by an incomplete obstruction of the small intestine and especially of the ileocecal valve , e.g. in Crohn s disease , or in rare cases of cancer of the small intestine . It is named after the German surgeon, Franz K nig surgeon Franz K nig 1832 1910 , and should not be confused with K nig s disease , also named after him. References http www.vulgaris medical.com encyclopedie konig syndrome de 2665.html http www.vulgaris medical.com encyclopedie konig syndrome de 2665.html WhoNamedIt synd 1972 K nig s syndrome F. K nig. Die stricturirende Tuberculose des Darmes und ihre Behandlung. Deutsche Zeitschrift f r Chirurgie , 1892 34 65 81. http www.mercksource.com pp us cns cns hl dorlands.jspzQzpgzEzzSzppdocszSzuszSzcommonzSzdorlandszSzdorlandzSzdmd s 32zPzhtm 12781264 Dorlands Medical Dictionary Category Syndromes Konig s syndrome med sign stub fr Syndrome de K nig ... more details
A withdrawal syndrome , also called a discontinuation syndrome is a set of symptoms occurring in discontinuation or dosage reduction of some types of medications. The risk of a discontinuation syndrome occurring increases with dosage and length of use. Alcohol withdrawal syndrome , symptoms seen when an individual reduces or stops alcohol consumption after periods of excessive alcohol intake Opioid dependence Opioid withdrawal , symptoms seen cessation or rapid reduction of intake of opioid class drugs Benzodiazepine withdrawal syndrome , symptoms that appear when a long term user stops taking benzodiazepines or reduces the dosage Cannabis withdrawal , a form of withdrawal associated with the substance cannabis Neonatal withdrawal , a withdrawal syndrome of infants, caused by administration of drugs or the prenatal exposure to a substance Nicotine withdrawal , the effects felt by a person who is nicotine dependent and suddenly stops or significantly reduces his or her nicotine intake SSRI discontinuation syndrome , a syndrome that can occur following the interruption, dose reduction, or discontinuation of SSRI or SNRI medications See also Physical dependence Withdrawal Rebound effect disambig ... more details
Pilotto syndrome is a rare syndrome which affects the face , heart , and back . The syndrome can cause a cleft lip and palate , scoliosis , and mental retardation . The Office of Rare Diseases and National Institutes of Health have classified this syndrome as affecting less than 200,000 people in the United States . ref cite web url http wrongdiagnosis.com p pilotto syndrome intro.htm title Pilotto syndrome publisher Health Grades Inc. accessdate 17 February 2010 ref References reflist disease stub Category Congenital disorders Category Syndromes Category Rare diseases ... more details
Infobox disease Name Aicardi syndrome ICD10 ICD10 G 93.8 g 93 ICD9 ICD9 742.2 ICDO Image Caption OMIM 304050 OMIM mult MedlinePlus 001664 eMedicineSubj ped eMedicineTopic 58 DiseasesDB 29761 Aicardi syndrome is a rare genetic congenital disorder malformation syndrome characterized by the partial or complete ... syndrome is theorized to be caused by a defect on the X chromosome as it has thus far only been observed in girls or in boys with Klinefelter s syndrome . Confirmation of this theory awaits the discovery of the gene which causes Aicardi syndrome. Symptoms typically appear before a baby reaches about ... syndrome in 1965 by Jean Aicardi , a French neurologist. A review article by Dr. Aicardi Aicardi J, Aicardi syndrome old and new findings, Int Pediatr. 1998 14 1 5 8 describes the syndrome. Aicardi syndrome should not be confused with Aicardi Gouti res syndrome , a distinct disorder. Citation needed date July 2008 Epidemiology Worldwide prevalence of Aicardi Syndrome is estimated at several ... cases of Aicardi syndrome have been in females. The few males that have been identified with Aicardi syndrome have proved to have 47 chromosomes including an XXY sex chromosome complement, a condition called Klinefelter syndrome . Citation needed date July 2008 Aicardi syndrome appears to be lethal in normal males who have only one X chromosome and a Y chromosome . In other words, Aicardi syndrome ... that is lethal in XY males. Citation needed date July 2008 All cases of Aicardi syndrome are thought to be due to new mutations . No person with Aicardi syndrome is known to have transmitted the X linked gene responsible for the syndrome to the next generation. Features Children are most commonly identified with Aicardi syndrome before the age of five months. A significant number of girls are products ... July 2008 Diagnosis Aicardi syndrome is typically characterized by the following triad of features however, one of the classic features being missing does not preclude a diagnosis of Aicardi Syndrome ... more details
Infobox disease Name Elejalde syndrome Image Alt Caption DiseasesDB ICD10 ICD9 ICDO OMIM 214450 MedlinePlus eMedicineSubj article eMedicineTopic 1069594 MeshID GeneReviewsID GeneReviewsName Elejalde syndrome also known as Griscelli syndrome type 1 is a rare autosomal recessive syndrome consisting of moderate pigment dilution, profound primary neurologic defects, no immune defects, and hair with metallic silvery sheen. ref name Andrews James, William Berger, Timothy Elston, Dirk 2005 . Andrews Diseases of the Skin Clinical Dermatology . 10th ed. . Saunders. ISBN 0 7216 2921 0. ref rp 866 It is associated with MYO5A . See also Griscelli syndrome References reflist Pigmentation disorders Cytoskeletal defects Category Disturbances of human pigmentation Category Cytoskeletal defects Cutaneous condition stub ... more details
Expert subject Medicine date March 2009 FACES syndrome is a syndrome of unique facial features, Anorexia symptom anorexia , cachexia , Human eye eye and Human skin skin anomalies. ref name pmid6438152 cite journal author Friedman E, Goodman RM title The FACES syndrome a new syndrome with unique facies, anorexia, cachexia, and eye and skin lesions journal J. Craniofac. Genet. Dev. Biol. volume 4 issue 3 pages 227 31 year 1984 pmid 6438152 ref References reflist disease stub Category Syndromes Category Musculoskeletal disorders Category Rare diseases roa rup Faces syndrome ... more details
Infobox Disease Name Grisel& 39 s syndrome Image Caption DiseasesDB 32750 ICD10 ICD9 ICD9 723.5 ICDO OMIM MedlinePlus eMedicineSubj orthoped eMedicineTopic 503 MeshID Grisel s syndrome is a non traumatic subluxation of the atlanto axial joint caused by inflammation of the adjacent tissues. References Grisel P. Enucl ation de l atlas et torticollis naso pharyngien. Presse Med 1930 38 50 4. Category Musculoskeletal disorders disease stub fr Syndrome de Grisel pl Zesp Grisela ... more details
Chiari syndrome or Chiari s disease may refer to one of the following diseases named after the 19th century Austrian pathologist Hans Chiari Arnold Chiari malformation , or simply Chiari malformation , a malformation of the brain Budd Chiari syndrome , a disease with typical symptoms of abdominal pain, ascites and hepatomegaly caused by occlusion of the hepatic veins Chiari Frommel syndrome, an older term for hyperprolactinaemia with extended postpartum galactorrhea and amenorrhea disambig ... more details
Orphan date February 2009 Hyperosmolar syndrome or diabetic hyperosmolar syndrome is a medical emergency caused by a very high blood glucose level . The prefix hyper means high, and osmolarity is a measure of the concentration of active particles in a solution, so the name of the syndrome simply refers to the high concentration of glucose in the blood. Signs & symptoms Hyperosmolar syndrome may take a long duration days and weeks to develop. However, certain signs and symptoms may indicate that such a condition is developing. Some of the signs include the following ref http www.mayoclinic.com health diabetic hyperosmolar syndrome DS00664 DSECTION 2 Diabetic hyperosmolar syndrome ref Excessive thirst despite frequently taking water other liquids Continued high level of blood sugar Dry and or parched mouth Frequency of urination increases Pulse rate becomes rapid Shortness of breath with exertion Skin becomes dry and warm and there is no sweating Sleepiness and or a condition of confusion External links http www.mayoclinic.com health diabetic hyperosmolar syndrome DS00664 DSECTION 1 Hyperosmolar syndrome a page from the site of Mayo Clinic References references Diabetes Category Diabetes ... more details
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