Unreferenced stub auto yes date December 2009 Psychoorganic syndrome is a progressive disease comparable to presenile dementia . It is caused by exposure to organic solvents such as toluene . See also Neurotoxicity Category Neurological disorders DEFAULTSORT Psychoorganic Syndrome Psych stub Disease stub pl Zaburzenia psychoorganiczne ... more details
Unreferenced stub auto yes date December 2009 Orphan date February 2009 In medicine, Valentino s syndrome is pain presenting in the right lower quadrant of the abdomen caused by a duodenum duodenal peptic ulcer ulcer with perforation through the retroperitoneum . DEFAULTSORT Valentino s Syndrome Med stub Category Abdominal pain ... more details
Image Triploidsyndrome.jpg thumbnail right 4KB A Karyotype of a person who has this genetic disorder. Triploid Syndrome is an extremely rare chromosomal disorder. Individuals with triploid syndrome have three of every chromosome for a total of sixty nine rather than the normal forty six chromosomes. Babies with Triploid Syndrome usually are lost through early miscarriage . However, some infants have been born and survived as long as five months. Affected infants are usually small and have multiple birth defects. Those that survive are usually Mosaic genetics mosaic , meaning that some cells have the normal number of 46 chromosomes and some Cell biology cells have a complete extra set of chromosomes. Also known as 2n 3n Mixoploidy 3n Syndrome Chromosome Triploidy Syndrome Diploid Triploid Mixoploidy Triploidy Triploidy Syndrome See also Digyny External links http www.webmd.com hw raising a family nord710.asp More Info about this Syndrome http www.health.yahoo.com ency healthwise nord710 More on this Syndrome on Yahoo Health Category Syndromes de Triploidie es Triploid a it Triploidia nds Triploidie pl Triploidia stq Triploidie sr ... more details
Kennedy s syndrome may mean Foster Kennedy syndrome Kennedy s disease Disambiguation Short pages monitor This long comment was added to the page to prevent it from being listed on Special Shortpages. It and the accompanying monitoring template were generated via Template Long comment. Please do not remove the monitor template without removing the comment as well. ... more details
Infobox Disease Name BIDS syndrome Image Caption DiseasesDB 32649 ICD10 ICD9 ICDO OMIM 234050 MedlinePlus eMedicineSubj eMedicineTopic MeshID BIDS syndrome , also called nonphotosensitive trichothiodystrophy 1 TTND1 , Amish brittle hair brain syndrome and hair brain syndrome , ref name omim OMIM 234050 ref is an autosome autosomal dominance genetics recessive ref name bar cite pmid 984047 ref genodermatosis similar to IBIDS syndrome but without the ichthyosiform changes. BIDS is characterized by brittle hair, intellectual impairment, decreased fertility, and short stature. ref name Fitz2 Freedberg, et al. 2003 . Fitzpatrick s Dermatology in General Medicine . 6th ed. . McGraw Hill. ISBN 0071380760. ref rp 501 It is associated with C7ORF11 . ref name pmid15645389 cite journal author Nakabayashi K, Amann D, Ren Y, et al. title Identification of C7orf11 TTDN1 gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy journal Am. J. Hum. Genet. volume 76 issue 3 pages 510 6 year 2005 month March pmid 15645389 pmc 1196401 doi 10.1086 428141 url http linkinghub.elsevier.com retrieve pii S0002 9297 07 63346 1 ref See also PIBI D S syndrome IBIDS syndrome Skin lesion List of cutaneous conditions References reflist DEFAULTSORT Bids Syndrome Category Genodermatoses Category Autosomal recessive disorders Category Rare diseases Category Syndromes Genodermatoses stub ... more details
Peters syndrome may refer to Peters plus syndrome Peters anomaly of the eye dab Short pages monitor This long comment was added to the page to prevent it from being listed on Special Shortpages. It and the accompanying monitoring template were generated via Template Long comment. Please do not remove the monitor template without removing the comment as well. ... more details
Infobox disease Name Roberts syndrome Image Virchow fetus 1898.JPG ICD10 ICD10 Q 73 8 q 65 OMIM 268300 GeneReviewsID rbs GeneReviewsName Roberts syndrome Roberts syndrome , or sometimes called pseudothalidomide syndrome , is an extremely rare genetic disorder that is characterized by mild to severe prenatal ..., face, arms, and legs. Roberts syndrome is also known by many other names, including Hypomelia Hypotrichosis Facial Hemangioma Syndrome, SC Syndrome once thought to be an entirely separate disease , Pseudothalidomide Syndrome, Roberts SC Phocomelia Syndrome, SC Phocomelia Syndrome, Appelt Gerken Lenz Syndrome, RBS, SC Pseudothalidomide Syndrome, and Tetraphocomelia Cleft Palate Syndrome. ref name Kugler Kugler, Mary. http rarediseases.about.com od rarediseasesr a 042205.htm Roberts syndrome Inherited ... search rdbdetail abstract.html?disname Roberts 20Syndrome Roberts syndrome. National Organization ... condition robertssyndrome Roberts syndrome. Genetics Home Reference. 2010. U.S. National Library ... on chromosome 8 human 8th chromosome . Named after John B. Roberts , who first described the syndrome ... 150 known individuals. The Syndrome is both autosome autosomal , in that there are equal numbers ..., or die. Roberts syndrome can affect both males and females. Although the disorder is rare, the affected ... for Roberts syndrome. In fact, ESCO2 is the only known gene that has demonstrated RBS causing mutations. Also, all individuals that have been Cytogenetics cytogenetically diagnosed with Roberts syndrome have also had mutations in the ESCO2 gene. ref name Gordillo2 In order to contract Roberts syndrome ... effect on cell division in Roberts syndrome patients. In normal cell division, each chromosome is copied ... . However, in Roberts syndrome cell division, the copies are frequently not attached at the centromere ... associated with Roberts syndrome. ref name Kugler Many of the physical malformations associated with Roberts syndrome are very similar to the malformations that occur in children whose mothers took ... more details
refimprove date January 2010 Infobox Disease Name Berdon syndrome Image Caption DiseasesDB 32131 ICD10 ICD9 ICDO OMIM 249210 MedlinePlus eMedicineSubj eMedicineTopic MeshID Berdon syndrome , also called Megacystis microcolon intestinal hypoperistalsis syndrome MMIH syndrome , ref name omim OMIM 249210 ref is an autosome autosomal dominance genetics recessive ref name bsaur cite pmid 1785644 ref genetic disorder affecting newborns. It is more prevalent in females, and is characterized by constipation and urinary retention, microcolon, giant Urinary bladder bladder megacystis , intestinal hypoperistalis, hydronephrosis , and dilated small bowel . The pathological findings consist of an abundance of ganglion cells in both dilated and narrow areas of the intestine . It is a familial disturbance of unknown etiology medicine aetiology . Walter Berdon et al. in 1976 first described the condition in five female infants, two of whom were sisters. All had marked dilatation of the bladder and some had hydronephrosis and the external appearance of prune belly syndrome prune belly . The infants also had microcolon and dilated small intestines . Genetics Image Autorecessive.svg thumb right Berdon syndrome has an autosomal recessive pattern of inheritance . Berdon syndrome is recessive gene autosomal recessive , which means the defective gene is located on an autosome , and two copies of the gene one inherited from each parent are required to be born with the disorder. The parents of an individual with an autosomal recessive disorder both carry one copy of the defective gene, but are usually not affected by the disorder. References reflist External links RareDiseases 3442 Megacystis microcolon intestinal hypoperistalsis syndrome OMIM 249210 Megacystis microcolon intestinal hypoperistalsis syndrome MMIH syndrome Berdon syndrome http www.pedrad.org displaycommon.cfm?an 1&subarticlenbr 54 Walter E. Berdon Awards Category Pediatrics Category Autosomal recessive disorders Category Syndromes ... more details
Infobox Disease Name Feingold syndrome Image Caption DiseasesDB 33706 ICD10 ICD9 ICDO OMIM 164280 MedlinePlus eMedicineSubj eMedicineTopic MeshID Feingold syndrome also called oculodigitoesophagoduodenal syndrome is a rare autosomal dominant hereditary disorder . It is named after Murray Feingold , an American physician who first described the syndrome in 1975. Until 2003, at least 79 patients have been reported worldwide. ref cite journal author T sz s A, Meijer R, Scheffer H, et al. title Expanding the clinical spectrum of MYCN related Feingold syndrome journal Am. J. Med. Genet. A volume 140 issue 20 pages 2254 6 year 2006 month October pmid 16906565 doi 10.1002 ajmg.a.31407 ref Characteristics Feingold syndrome is marked by various combinations of microcephaly , limb malformations , esophagus esophageal and duodenum duodenal atresia s, and sometimes learning disability or mental retardation . ref cite journal author Celli J, van Bokhoven H, Brunner HG title Feingold syndrome clinical review and genetic mapping journal Am. J. Med. Genet. A volume 122A issue 4 pages 294 300 year 2003 month November pmid 14518066 doi 10.1002 ajmg.a.20471 ref Genetics and cause Image Autosomal dominant en.svg thumb right Feingold Syndrome is inherited in an autosomal dominant fashion. Feingold syndrome is caused by mutations in the N Myc neuroblastoma derived V myc avian myelocytomatosis viral related oncogene MYCN which is located on the short arm of chromosome 2 2p24.1 . Diagnosis and treatment The diagnosis is based on the following clinical findings microcephaly clinodactyly and shortness of index and little fingers syndactyly of 2nd & 3rd and 4th & 5th toe short palpebrae palpebral fissures esophageal and or duodenal atresia References reflist External links http www.ncbi.nlm.nih.gov bookshelf br.fcgi?book gene&part feingold GeneReview NIH UW entry on Feingold syndrome Transcription factor coregulator deficiencies DEFAULTSORT Feingold Syndrome Category Autosomal dominant disorders ... more details
multiple issues cleanup July 2009 introrewrite July 2009 Michels syndrome is a syndrome characterised by mental deficiency , craniosynostosis , blepharophimosis , ptosis , epicanthus inversus , ref name pmid2240039 cite journal author Cunniff C, Jones KL title Craniosynostosis and lid anomalies report of a girl with Michels syndrome journal Am. J. Med. Genet. volume 37 issue 1 pages 28 30 year 1990 month September pmid 2240039 doi 10.1002 ajmg.1320370108 url ref ref name pmid16096999 cite journal author Titomanlio L, Bennaceur S, Bremond Gignac D, Baumann C, Dupuy O, Verloes A title Michels syndrome, Carnevale syndrome, OSA syndrome, and Malpuech syndrome variable expression of a single disorder 3MC syndrome ? journal Am. J. Med. Genet. A volume 137A issue 3 pages 332 5 year 2005 month September pmid 16096999 doi 10.1002 ajmg.a.30878 ref highly arched eyebrows , and hypertelorism . ref name pmid16096999 ref name pmid17236195 cite journal author Al Kaissi A, Klaushofer K, Safi H, et al. title Asymmetrical skull, ptosis, hypertelorism, high nasal bridge, clefting, umbilical anomalies, and skeletal anomalies in sibs is Carnevale syndrome a separate entity? journal Am. J. Med. Genet. A volume 143 issue 4 pages 349 54 year 2007 month February pmid 17236195 doi 10.1002 ajmg.a.31610 ref And vary in other symptoms such as asymmetry of the Human skull skull , eyelid , and anterior chamber anomalies, cleft lip and palate , umbilical anomalies , and Human development biology growth and cognitive development . ref name pmid16096999 ref name pmid17236195 See also Malpuech facial clefting syndrome References reflist DEFAULTSORT Michels Syndrome Category Syndromes Category Congenital disorders Category Autosomal recessive disorders Category Rare diseases disease stub ... more details
signs of the syndrome in 1972. ref OMIM 279000 Young syndrome ref There have been several studies undertaken suggesting that contact with mercury element mercury might cause the syndrome. ref cite journal doi 10.1136 bmj.307.6919.1579 author Hendry WF, A Hern RP, Cole PJ title Was Young s syndrome ... pmid 8292944 pmc 1697782 ref A variant of Young s syndrome has been observed in an individual, showing ... J, Kamiryo Y, Takihara H title Young s syndrome associated with situs inversus totalis journal ... Cystic fibrosis References Reflist cite journal author Lau KY, Lieberman J title Young s syndrome ... more details
Infobox disease Name Nephritic syndrome Image Caption DiseasesDB ICD10 ICD10 N 00 n 00 , ICD10 N 01 n ... MeshID Not to be confused with nephrotic syndrome Nephritic syndrome or acute nephritic syndrome ref DorlandsDict nine 20711646 acute nephritic syndrome ref is a collection of signs known as a syndrome associated with disorders affecting the kidney s, more specifically Glomerulus kidney ... and red blood cell s hematuria to pass into the urine. By contrast, nephrotic syndrome is characterized by only proteins proteinuria moving into the urine. Both nephritic syndrome and nephrotic syndrome ... , and nephritic syndrome becomes more probable. It is usually distinguished from nephrotic syndrome ... referred to as nephritic nephrotic , though this is considered a progression of a nephritic syndrome, and categorically not a nephrotic syndrome . ref name urlAcute Nephritic Syndrome cite web url http www.pathology.vcu.edu education dental2 renal.html title Acute Nephritic Syndrome work accessdate 2011 06 05 ref Some conditions can cause either syndrome , and both syndromes can have a similar ... in the early stages of a differential diagnosis . Signs and symptoms Nephritic syndrome is characterized ... in nephritic syndrome is not usually severe, but may occasionally be heavy enough to be in the range usually found in nephrotic syndrome . Mnemonic PHARAOH Proteinuria, Hematuria, Azotemia, RBC casts, Anti strep titres if post strep , Oliguria, Hypertension Diagnosis Nephritic syndrome is not a specific diagnosis. It is a clinical syndrome and characterized by the above signs. An anti streptolysin ... . Differential diagnosis The two classic diagnoses of nephritic syndrome are post streptococcal glomerulonephritis ... syndrome causes are usually grouped into focal proliferative and diffuse proliferative on the basis ... failure Celiac sprue dermatitis herpetiformis Henoch Schoenlein purpura Alport syndrome lupus erythematosus ... C , chronic infection , sickle cell disease , lupus erythematosus SLE , hemolytic uremic syndrome ... more details
Multiple issues citation style October 2009 refimprove October 2009 Infobox Disease Name Costello syndrome ... MeshID Costello syndrome , also called faciocutaneoskeletal syndrome or FCS syndrome , is a rare ... cardiomyopathy . Infants with Costello syndrome may be large at birth, but grow more slowly than ... childhood, people with Costello syndrome have an increased risk of developing certain cancerous ... frequent cancerous tumor associated with Costello syndrome is a soft tissue tumor called a rhabdomyosarcoma ... transitional cell carcinoma . Costello Syndrome was discovered by Dr Jack Costello, a New Zealand ... September 2011 ref He is credited with first reporting the syndrome in the Australian Paediatric Journal, Volume 13, No.2 in 1977. ref name pmid907573 cite journal author Costello JM title A new syndrome ... year 1977 month June pmid 907573 doi url ref Genetics Costello syndrome is caused by any of at least ... Ras, that helps control cell growth and cell division division . Mutations that cause Costello syndrome ... cause other features of Costello syndrome, but many of the signs and symptoms may result from cell ... people can contribute to cancer. Whereas children with Costello syndrome typically have a mutation ... can also be used to test children for Costello syndrome. Costello syndrome is inherited in an autosomal ... worldwide. Historical significance That Mutation genetic mutation s in HRAS cause Costello syndrome ... cardiofaciocutaneous syndrome , found soon after, surprised geneticists and changed how genetic ... mutations in genes with mutations that caused syndromes similar to the unknown syndrome. Citation needed date October 2009 For example, researchers looked at and around the most common Noonan syndrome mutation, PTPN11 , but did not find anything related to Costello syndrome or cardiofaciocutaneous syndromesyndrome. Citation needed date October 2009 The first mutation that is now identified as one of the Costello syndrome allele s was found unexpectedly when Japanese researchers used the DNA of children ... more details
Wernicke syndrome is an ambiguous term. It may refer to Receptive aphasia Wernicke aphasia the eponym ous term for receptive or sensory aphasia. Wernicke s encephalopathy Wernicke encephalopathy an acute neurology neurological syndrome of ophthalmoparesis , ataxia , and encephalopathy brought on by thiamine deficiency. Wernicke Korsakoff syndrome , also called Korsakoff psychosis a subacute dementia syndrome, often following Wernicke encephalopathy , characterized clinically by confabulation and clinicopathologically correlated with degeneration of the mammillary body mammillary bodies . See also Carl Wernicke 1848 1905 , the neurologist who described all of these syndromes. Wernicke s area , named after Carl Wernicke, a brain region associated with the understanding of written and spoken language. disambig it Sindrome di Wernicke ... more details
Tsukuhara syndrome is an infrequently occurring skeletal dysplasia characterised by a caudal synostosis of the vertebra at birth. References Unreferenced date January 2009 disease stub Category Congenital disorders of musculoskeletal system ... more details
Infobox Disease Name FG syndrome Image Caption DiseasesDB 32162 ICD10 ICD9 ICDO OMIM 305450 MedlinePlus eMedicineSubj eMedicineTopic eMedicine mult MeshID GeneReviewsID fg GeneReviewsName MED12 related disorders FG syndrome FGS also known as Opitz Kaveggia syndrome is a rare genetic syndrome linked to the X chromosome and causing physical anomalies and developmental delays. First reported by Opitz and Kaveggia in 1974, ref name Opitz 1974 its major clinical features include Mental retardation retardation , hyperactivity , hypotonia low muscle tone , and a characteristic facial appearance including macrocephaly an abnormally large head . ref name Thompson Characteristics FG syndrome s major clinical features include mental retardation, usually severe hyperactive behavior, often with an outgoing personality severe constipation, with or without structural anomalies in the anus such as imperforate anus macrocephaly severe hypotonia a characteristic facial appearance due to hypotonia, giving a droopy, open mouthed expression, a thin upper lip, a full or pouting lower lip, and partial or complete loss of the corpus callosum . About a third of reported cases of individuals with FG syndrome ... Thompson vcite journal author Thompson E, Baraitser M title FG syndrome journal J Med Genet volume ... File Peek1.jpg thumb upright Kim Peek 1951 2009 probably had FG syndrome. The name of the syndrome comes from the initials of the surnames of two sisters, who had five sons with the syndrome. The first study of the syndrome, published in 1974, ref name Opitz 1974 vcite journal author Opitz JM, Kaveggia EG title Studies of malformation syndromes of man XXXIII the FG syndrome. An X linked recessive syndrome of multiple congenital anomalies and mental retardation journal Z Kinderheilkd volume 117 ... Rain Man , probably had FG syndrome. ref name Opitz 2008 See also Lujan Fryns syndrome References ... Genetic disorder stub de FG Syndrom es S ndrome FG fr Syndrome FG pl Zesp Opitza Kaveggii ... more details
Infobox disease Name Pashayan syndrome Image Caption DiseasesDB 33647 ICD10 ICD9 ICDO OMIM 110050 OMIM mult OMIM2 601390 MedlinePlus eMedicineSubj eMedicineTopic MeshID Pashayan syndrome also known as Pashayan Prozansky Syndrome , and Blepharo Naso Facial syndrome is a rare syndrome. Facial abnormalities characterise this syndrome as well as malformation of extremities. ref Cite book first1 Bruno last1 Bissonnette first2 Igor last2 Luginbuehl first3 Bernard J. last3 Dalens first4 Bruno last4 Marciniak title Syndromes rapid recognition and perioperative management year 2006 publisher McGraw Hill isbn 978 0 07 135455 4 author editor, Bruno Bissonnette. Page needed date September 2010 ref Specific characteristics would be a bulky, flattened nose, where the face has a mask like appearance and the ears are also malformed. ref Cite journal pmid 10631920 year 1999 author1 Stoll first2 J first3 M title A three generations family with blepharo naso facial malformations suggestive of Pashayan syndrome volume 10 issue 4 pages 337 43 journal Genetic counseling Geneva, Switzerland ref A subset of Pashayan syndrome has also been described, known as Cerebrofacioarticular syndrome , Van Maldergem syndrome or Van Maldergem Wetzburger Verloes Syndrome . Similar symptoms are noted in these cases as in Pashayan syndrome. ref Cite journal pmid 1633641 year 1992 author1 Van Maldergem first2 C first3 A first4 C first5 Y title Mental retardation with blepharo naso facial abnormalities and hand malformations a new syndrome? volume 41 issue 1 pages 22 4 journal Clinical genetics ref ref Cite journal pmid 8026105 year 1994 author1 Zampino first2 C first3 F first4 P first5 F first6 G first7 P title Cerebro facio articular syndrome of Van Maldergem confirmation of a new MR MCA syndrome volume 45 issue 3 pages 140 4 journal Clinical genetics ref ref Cite journal pmid 601390 year 1977 author1 Gastaut ... ref References Reflist DEFAULTSORT Pashayan Syndrome Category Rare diseases Disease stub ... more details
A specific mononeuropathy, caused by entrapment of the superficial branch of the radial nerve. ref cite journal last Lanzetta first M coauthors Foucher, G title Entrapment of the superficial branch of the radial nerve Wartenberg s syndrome . A report of 52 cases. journal International orthopaedics date 1993 Dec volume 17 issue 6 pages 342 5 pmid 8163306 ref Symptoms include numbness, tingling, and weakness of the posterior aspect of the thumb. It is not to be confused with Wartenbergs migratory sensory neuropathy , Waardenburg syndrome , or Lateral medullary syndrome known as Wallenberg s Syndrome . references Category Neurological disorders Category Peripheral nervous system disorders Disease stub ... more details
Infobox Disease Name Sugarman syndrome Image Caption DiseasesDB 31980 ICD10 ICD9 ICDO OMIM 258850 MedlinePlus eMedicineSubj eMedicineTopic MeshYear 2006 MeshName Orofaciodigital Syndromes MeshNumber C05.116.099.370.652 Sugarman syndrome is the common name of autosomal recessive oral facial digital syndrome type III, one of ten distinct genetic disorders that involve developmental defects to the mouth. ref cite web title Oral Facial Digital Syndrome url http www.rarediseases.org search rdbdetail abstract.html?disname Oral Facial Digital 20Syndrome year 2006 publisher National Organization for Rare Disorders accessdate 2007 04 02 ref Alternative names for this condition include Brachydactyly of the hands and feet with duplication of the first toes , Sugarman brachydactyly and Brachydactyly with major proximal phalangeal shortening . ref cite web author Office of Rare Diseases title Sugerman Syndrome url http rarediseases.info.nih.gov GARD Disease.aspx?PageID 4&diseaseID 5058&Expanded true publisher National Institutes of Health date July 19, 2006 accessdate 2007 04 02 ref Image autorecessive.svg thumb right Sugarman syndrome has an autosomal recessive pattern of inheritance . References reflist DEFAULTSORT Sugarman Syndrome Category Autosomal recessive disorders Category Rare diseases Category Syndromes disease stub ... more details
Infobox disease Name Felty& 39 s syndrome Image Caption DiseasesDB 11506 ICD10 ICD10 M 05 0 m 05 ICD9 ... Felty s syndrome , also called Felty syndrome , ref name omim OMIM 134750 ref is characterized by the combination ... author Balint GP, Balint PV title Felty s syndrome journal Best Pract Res Clin Rheumatol volume ... name fsad cite pmid 984910 ref Symptoms The symptoms of Felty s syndrome are similar to those of rheumatoid ... of the hands, feet, and arms. In some affected individuals, Felty s syndrome may develop during ... or are not present. In this case, Felty s syndrome may remain undiagnosed. In more rare instances, the development of Felty s syndrome may precede the development of the symptoms and physical findings associated with rheumatoid arthritis. Felty s syndrome is also characterized by an abnormally enlarged ... with Felty s syndrome may also experience fever, weight loss, and or fatigue. In some cases, affected ... title CIGNA Felty s Syndrome accessdate 2008 11 07 ref Causes The cause of Felty s syndrome is unknown. It is more common in people who have had rheumatoid arthritis for a long time. People with this syndrome ... web url http healthguide.howstuffworks.com feltys syndrome dictionary.htm title HowStuffWorks Felty s Syndrome Medical Dictionary accessdate 2008 11 07 ref Complications Recurrent Infection, Hypersplenism ... Diagnosis Felty s syndrome is defined by the presence of three conditions rheumatoid arthritis, an enlarged ... with rheumatoid arthritis. ref cite web url http www.medicinenet.com feltys syndrome article.htm title Felty s Syndrome Causes, Symptoms, Diagnosis and Treatment by MedicineNet.com accessdate 2008 11 07 ref Treatment The best treatment for Felty s syndrome is to control the underlying RA. Immunosuppressive ... the fact that Felty s syndrome is an immune mediated disease. Most of the traditional medications used to treat RA have been used in the treatment of Felty s syndrome. No well conducted, randomized ... Felty s Syndrome author Keating, Richard M. accessdate 2008 11 07 ref Splenectomy may improve neutropenia ... more details
Context date May 2009 Technical date May 2009 Reynolds syndrome is a rare Autoimmunity autoimmune disease, consisting of the combination of primary biliary cirrhosis and scleroderma progressive systemic sclerosis . In some patients this syndrome has also been associated with Sj gren s syndrome and hemolytic anemia . Typical clinical features include jaundice , elevated blood levels of alkaline phosphatase , calcinosis cutis , telangiectasia s, and pruritus . This disease may cause white or yellow ish spots on the arms or legs. The syndrome, a special case of scleroderma, is named after the American physician, Telfer B. Reynolds, MD 1921 2004 , who first described it. He is also known for creating one of the world s first hepatology programs at the University of Southern California . It should not be confused with the more common Raynaud s phenomenon . References Reflist T. B. Reynolds, E. K. Denison, H. D. Frank, F. L. Lieberman, R. L. Peters Primary biliary cirrhosis with scleroderma, Raynaud s phenomenon and telangiectasia. New syndrome. American Journal of Medicine, New York, 1971, 50 3 302 312. Volker Stadie, Johannes Wohlrab, Wolfgang Christian Marsch The Reynolds Syndrome a Rare Combination of Two Autoimmune Diseases. Medizinische Klinik, M nchen, 2002, 97 1 40 43. DEFAULTSORT Reynolds Syndrome Category Autoimmune diseases Category Digestive diseases Category Hepatology Category Rheumatology Category Syndromes Category Rare diseases disease stub ... more details
Infobox VG width title Moonlight Syndrome image File Moonlight Syndrome cover.jpg 252px caption developer Human Entertainment publisher Human Entertainment distributor designer series engine version released 1997 October 9 genre Adventure game Adventure , Survival horror Horror modes ratings platforms PlayStation console PlayStation media CD ROM requirements input Moonlight Syndrome is a video game developed by Goichi Suda for Human Entertainment . The game was only released in Japan on the PlayStation console PlayStation system. This game is Twilight Syndrome Search and Twilight Syndrome Investigation s anecdote work. External links GameFAQs id 573239 name Moonlight Syndrome Wikia suda51 Suda51 Wiki Moonlight Syndrome http killer7.3dactionplanet.gamespy.com moonlight.html Fansite Suda 51 Category 1997 video games Category Adventure games Category Horror video games Category Japan exclusive video games Category PlayStation games Category PlayStation only games Adventure videogame stub ja ... more details
A malformative syndrome or malformation syndrome is a recognizable pattern of congenital anomaly congenital anomalies that are known or thought to be causally related VIIth International Congress on Human Genetics . Causes exogenous causes exogenous toxic teratogenetic agent s ionizing radiation s fetal infection s maternofetal infection s genetic causes or intrinsic causes genetic malformative diseases chromosomal anomaly chromosomal anomalies chromosomal malformative diseases numerical chromosomal anomalies e.g. trisomy 13 , trisomy 18 , trisomy 21 structural chromosomal anomalies microdeletion s microdeletion syndrome s chromosomal rearrangement s gene mutation s monogenic malformative diseases Kabuki mask syndrome MLL2 Joubert syndrome , Meckel syndrome and related syndromes TMEM216 cleft lip with and without cleft palate MAFB and ABCA4 Schinzel Giedion syndrome SETBP1 Fanconi anemia and related disorders RAD51C Noonan syndrome NRAS generalized lymph vessel dysplasia CCBE1 brachydactyly anonychia SOX9 inherited metabolic disorder genetic metabolic diseases Smith Lemli Opitz syndrome See also malformative combination malformation combination malformative sequence malformation sequence malformative association malformation association Congenital abnormality Malformative syndrome ICD 10 Chapter Q Congenital malformations, deformations and chromosomal abnormalities List of congenital disorders List of ICD 9 codes 740 759 Congenital anomalies March of Dimes References Reflist 2 External links http www.cdc.gov ncbddd bd facts.htm CDC s National Center on Birth Defects and Developmental Disabilities http www.answers.com topic congenital disorder?cat health Comprehensive coverage of congenital disorders and birth defects at Answers.com http www3.interscience.wiley.com journal 118496598 home Congenital Anomalies , official journal of the http jts.umin.jp Japanese Teratology Society http www.stopcmv.com Stop CMV The CMV Action Network Medical conditions Category Congenital ... more details
linkrot date January 2012 Confusing date December 2011 Tegumental Angiomyxoma Neurothekeoma TAN syndrome ref http www.clinicsandpractice.org index.php cp article view cp.2011.e67 ref is a syndrome , an Acronym and initialism acronym , and eponym cn date October 2011 proposed by Ophthalmology ophthalmologist Tan Aik Kah. ref name ref Tan Aik Kah, Ku Chui Yong, Faridah Hanom Annuar. Neurothekeoma palpebrae in association with multiple superficial angiomyxomas Tegumental Angiomyxoma Neurothekeoma syndrome TAN syndrome Clinics and Practice 2011 1 e67 doi 10.4081 cp.2011.e67 . ref ref http www.researchgate.net profile Tan Aik Kah ref Angiomyxomas are associated with Carney complex LAMB lentigines, atrial myxomas, muco cutaneous myxomas, and blue naevi syndrome, ref Rhodes AR, Silverman RA, Harrist TJ, Perez Atayde AR. Mucocutaneous lentigines, cardiomucocutaneous myxomas, and multiple blue nevi the LAMB syndrome. J Am Acad Dermatol. Jan 1984 10 1 72 82. ref NAME nevi, atrial myxoma, myxoid neurofibromas, and ephelides ref http www.medterms.com script main art.asp?articlekey 25168 ref syndrome and Carney complex Carney syndrome atrial, cutaneous and mammary myxomas, lentigines, blue naevi, endocrine disorders and Testicular cancer testicular tumours . ref http emedicine.medscape.com article 1097150 overview ref TAN syndrome is characterized by multiple superficial angiomyxoma and neurothekeoma confined only to the skin tegument . ref name ref TAN syndrome may be used to describe myxomas confined to the skin without visceral involvement. Citation needed date December 2011 Case Tan et al reported a 10 year old girl with multiple superficial angiomyxoma associated with neurothekeoma palpebrae. ref http www.clinicsandpractice.org index.php cp article view cp.2011.e67 ref The was no evidence of visceral involvement. The lesions were excised with no recurrence during follow up. Citation needed date December 2011 References Reflist Category Cutaneous conditions ... more details
orphan date March 2010 Joswig syndrome is a very rare presumably hereditary disorder, which belongs to the group of GM2 gangliosidoses and was first mentioned by H. Joswig M.D. in 1882. ref http www.nlm.nih.gov archive 20061212 mesh jablonski syndrome toc toc a.html National Library of Medicine ref As opposed to gangliosidoses such as Tay Sachs disease or Sandhoff disease , which affect the brain and the spinal cord, Joswig syndrome is a predominant disease of the peripheral nervous system . Histology reveals a diffuse swelling of the Nodes of Ranvier in peripheral nerves preferably in the upper limbs, which goes hand in hand with a decrease in function and sensitivity. ref Handb Clin Neurol. 2007 82 171 7. ref The etiology and pathogenesis of Joswig syndrome remain unclear since only 10 cases have been reported worldwide. References references DEFAULTSORT Joswig Syndrome Category Neurological disorders Category Rare diseases disease stub ... more details
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