Infobox disease Name Fanconisyndrome Image Caption DiseasesDB 11687 ICD10 ICD10 E 72 0 e 70 ICD9 ICD9 270.0 ICDO OMIM MedlinePlus eMedicineSubj ped eMedicineTopic 756 MeshID D005198 Fanconisyndrome also known as Fanconi s syndrome is a disease of the proximal renal tubule s ref DorlandsDict nine 000952604 Fanconisyndrome ref of the kidney in which glucose , amino acid s, uric acid , phosphate and bicarbonate are passed into the urine, instead of being reabsorbed. Fanconisyndrome affects the Nephron ... http www.merck.com mmhe sec11 ch146 ch146f.html FanconiSyndrome at Merck Manual Home Edition ref Different forms of Fanconisyndrome can affect different functions of the proximal tubule, and result ... of function mutation in NaPi IIa and renal Fanconi s syndrome, N Engl J Med 362 1102 ref Eponym ... Causes In contrast to Hartnup disease and related tubular conditions, Fanconisyndrome affects ... overview title FanconiSyndrome eMedicine Pediatrics General Medicine format work accessdate ref There are different diseases underlying Fanconisyndrome. They can be inheritance inherited , congenital or acquired. Inherited Cystinosis is the most common cause of Fanconisyndrome in children. Other recognised causes of Fanconi s syndrome are Wilson s disease a genetically inherited condition ... studies in three genetic forms of the renal Fanconisyndrome journal Am. J. Physiol. Renal ..., Fanconisyndrome can develop secondary to use of an antiretroviral regimen containing tenofovir ... and didanosine causing Fanconisyndrome and diabetes insipidus a report of 3 cases. AIDS Reader. 2009 19 114 121. ref Lead poisoning also leads to Fanconisyndrome. ref name pmid15722646 cite journal ... pmid17329920 cite journal author Hashimoto T, Arakawa K, Ohta Y, et al. title Acquired fanconisyndrome ... scholar.google.co.uk scholar?hl en&lr &q intitle 3AAcquired fanconisyndrome with osteomalacia secondary ... cause. Treatment Treatment of children with Fanconisyndrome mainly consists of replacement of substances ... more details
also Fanconi anemia Prader Willi syndrome , discovered by a team of physicians including Fanconi. Fanconisyndrome , likely a misnomer, as this entity was not described by Fanconi. References Journal ...Image Guido Fanconi.JPG thumb Guido Fanconi, ca. 1959. br Photo Ze ev Aleksandrowicz Guido Fanconi 1 January 1892 &ndash 10 October 1979 was a Switzerland Swiss pediatrician . He was born in Poschiavo , Canton Grisons Graub nden in the Italian speaking region of Switzerland. Fanconi is regarded as one of the founders of modern pediatrics. He received his secondary school education in Zurich , in the German speaking part of Switzerland. In 1911, he began his medical training in Lausanne French Switzerland . In 1920, he entered the Kinderspital Children s Hospital of the University of Zurich , where, with the exception of one year, he remained for 45 years. Fanconi recognized the importance of biochemistry to clinical medicine. In 1929 he succeeded Emil Feer as professor of pediatrics and head ... in the world. There are several medical condition s named after Dr. Fanconi. In 1927 he described hereditary panmyelopathy with short stature and hyperpigmentation, better known as Fanconi anemia . In 1934 ... direction. In 1941 a large epidemic of poliomyelitis occurred in Switzerland. Fanconi analyzed its ... connections culminated in his prediction that Down syndrome was due to a chromosomal abnormality ... Paediatrica Acta , which has become an internationally renowned periodical. Dr. Fanconi retired in 1965 ... It? Guido Fanconi http www.nature.com nrc journal v6 n11 pdf nrc2009.pdf Biography of Guido Fanconi ... Cancer Nov. 2006 Persondata Metadata see Wikipedia Persondata . NAME Fanconi, Guido ALTERNATIVE NAMES SHORT DESCRIPTION DATE OF BIRTH PLACE OF BIRTH DATE OF DEATH PLACE OF DEATH DEFAULTSORT Fanconi ... Category People associated with the University of Zurich de Guido Fanconi es Guido Fanconi eo Guido Fanconi fr Guido Fanconi it Guido Fanconi nl Guido Fanconi pl Guido Fanconi ... more details
Erziehung, Wien,1927, 117 257 280. ref It should not be confused with Fanconisyndrome , a kidney disorder also named after Fanconi. Genetic prevalence Image autorecessive.svg thumb right Fanconi ...Infobox disease Name Fanconi Anemia ICD10 ICD10 D 61 0 d 60 ICD9 ICD9 284.0 ICDO Image Caption OMIM 227650 ... Fanconi anemia FA is a Genetic disorder genetic disease with an incidence of 1 per 350,000 births ... patho Pro en FanconiAnemia FRenPro634.pdf Fanconi s Anemia Orpha.net Encyclopedia, Ethel Moustacchi ... pathways in Fanconi s anemia and breast cancer journal N. Engl. J. Med. volume 362 issue 20 pages ... this disorder, Guido Fanconi . ref WhoNamedIt synd 61 ref ref G. Fanconi. Famili re, infantile pernicios hnliche ..., which means that if the mother has a Fanconi anemia gene there is a 50 chance that male offspring will present with Fanconi anemia. There are at least 13 genes whose mutations are known to cause ... DI, Auerbach AD title Fanconi anemia in Ashkenazi Jews journal Fam. Cancer volume 3 issue 3 4 pages ... is recommended for families that may be carriers of Fanconi anemia. Because of the failure of hematologic ... treatment emedicine Anemia, Fanconi Treatment & Medication Author Blanche P Alter, MD, MPH. Updated ... and will be free from Fanconi anemia itself. ref cite journal doi 10.1001 jama.285.24.3130 last1 Verlinsky ... diagnosis for Fanconi anemia combined with HLA matching volume 285 url journal JAMA pmid 11427142 .... The overarching medical challenge that Fanconi patients face is a failure of their bone marrow to produce blood cells. In addition, Fanconi patients normally are born with a variety of birth defects. For instance, 90 of the Ashkenazi children born with Fanconi s have no thumbs. A good number of Fanconi patients have kidney problems, trouble with their eyes, developmental retardation and other ... journal author Garcia Higuera I, Taniguchi T, Ganesan S, et al. title Interaction of the Fanconi ... inactivation of BRCA2 in Fanconi anemia journal Science journal volume 297 issue 5581 pages 606 9 year ... more details
Other uses In medicine and psychology , a syndrome is the association of several clinically recognizable ... distinction between Parkinson s disease and a Parkinsonian syndrome, whereby the latter could ... system atrophy . In other words, in a medical setting, a syndrome might narrow down the possible ... to a combination of phenomena seen in association. The term syndrome derives from the Greek language ... together the pathophysiology of the syndrome has not yet been discovered. A familiar syndrome name often ..., 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 biological cause, and that is only ... of a syndrome usually includes a number of essential characteristics, which when concurrent ... 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 statistically related, they do not have ... or risk factor that explains the association. An example would be Down syndrome , which has the associated ... looked for in the management of the syndrome. Case studies One recent case study is AIDS acquired immune deficiency syndrome AIDS , so named because most syndromal immune deficiencies ... syndrome . Severe acute respiratory syndrome SARS severe acute respiratory syndrome is an even more recent example of a syndrome in medicine that was later explained with the identification of a causative ... Sina Avicenna, 980 1037 , in The Canon of Medicine , pioneered the idea of a syndrome in the diagnosis ... Press , ISBN 0 19 513580 6. ref Verify source date September 2010 The concept of a medical syndrome ... Withdrawal Withdrawal syndrome Child development References Reflist External links Wiktionary syndrome http www.whonamedit.com Whonamedit.com a repository of medical eponyms Medical conditions ... more details
PBB geneid 2176 Fanconi anemia group C protein is a protein that in humans is encoded by the FANCC gene ... four Fanconi anaemia genes including FACC on chromosome 9 journal Nat Genet volume 1 issue ... web title Entrez Gene FANCC Fanconi anemia, complementation group C url http www.ncbi.nlm.nih.gov sites ... homologous recombination repair of damaged DNA. Mutations in this gene result in Fanconi anemia. ref name entrez cite web title Entrez Gene FANCC Fanconi anemia, complementation group C url http www.ncbi.nlm.nih.gov ... Fanconi anemia, complementation group C has been shown to Protein protein interaction interact with STAT1 ... T A, Keeble W, Faulkner G, Diaz J, Rathbun R K, Bagby G C year 2000 month Jul. title The Fanconi ... G, Huber Pia A J year 2003 month Oct. title Yeast two hybrid screens imply involvement of Fanconi ... G C year 2001 month Sep. title The Fanconi anemia complementation group C gene product structural ... repressor protein interacts with the Fanconi anemia group C protein and PLZF journal Blood ... Fanconi anemia group C protein prevents apoptosis in hematopoietic cells through redox regulation of GSTP1 ... year 1997 month Aug. title The Fanconi anemia polypeptide, FAC, binds to the cyclin dependent kinase ... E, Lambert M W year 1999 month Nov. title Human alpha spectrin II and the Fanconi anemia proteins FANCA ... pathway requires the Fanconi anemia protein, FANCC journal J. Biol. Chem. volume 277 issue 51 pages ... P year 2004 month Sep. title The Fanconi anemia gene product FANCF is a flexible adaptor protein ... M E, Joenje H year 2000 month Nov. title The Fanconi anemia protein FANCF forms a nuclear complex ... Jul. title Fanconi anemia proteins FANCA, FANCC, and FANCG XRCC9 interact in a functional nuclear ..., Shabanowitz Jeffrey, Hunt Donald F, Grant Patrick A, Kupfer Gary M year 2004 month Jun. title The Fanconi ... ubiquitin ligase is deficient in Fanconi anemia journal Nat. Genet. volume 35 issue 2 pages 165 ... The Fanconi anemia protein, FANCE, promotes the nuclear accumulation of FANCC journal Blood volume 100 ... more details
Orphan date February 2009 Infobox disease Name Wissler& 39 s syndrome Image Caption DiseasesDB 33708 ICD10 ICD9 ICDO OMIM MedlinePlus eMedicineSubj eMedicineTopic MeshID D014924 Wissler s syndrome or Wissler Fanconisyndrome is a rheumatic disease that has a similar presentation to sepsis . It is sometimes considered closely related to Still s disease . ref name pmid8150635 Cite journal author Fink Puches R, Smolle J, Kerl H title Wissler s allergic subsepsis language German journal Hautarzt volume 45 issue 2 pages 80 3 year 1994 month February pmid 8150635 doi 10.1007 PL00013261 url ref It is named for Hans Wissler . ref WhoNamedIt synd 84 ref ref H. Wissler. ber eine besondere Form sepsis hnlicher Krankheiten Subsepsis hyperergica . Monatsschrift Kinderheilkunde, Berlin, 1943, 94 1 15. ref References Reflist Category Rheumatology disease stub ... more details
and vitamin D resistant rickets . Lowe syndrome can be considered a cause of Fanconisyndrome ... proteomic and metabonomic studies in three genetic forms of the renal Fanconisyndrome journal Am. J ..., glucose, and L carnitine. This problem is known as Fanconi type renal tubular dysfunction and can also be seen in certain other diseases and syndromes. In Lowe syndrome, the Fanconisyndrome ...Infobox disease Name Oculocerebrorenal syndrome Image Caption DiseasesDB 29146 ICD10 ICD10 E 72 0 e 70 ICD9 ICD9 270.8 ICDO OMIM 309000 MedlinePlus eMedicineSubj oph eMedicineTopic 516 MeshID D009800 Oculocerebrorenal syndrome also called Lowe syndrome is a X linked recessive disorder characterized by hydrophthalmia ... ref Lowe Syndrome LS is a rare genetic condition that causes physical and mental handicaps, and medical ... General Hospital in Boston. The condition became known as Lowe syndrome named after Dr. Charles ... involved eyes, brain, and kidney , it is also known as OCRL oculo cerebro renal syndrome. Presentation Boys with Lowe Syndrome are born with cataracts in both eyes, which are usually removed at a few ... is present in about 50 of the boys with Lowe syndrome, though usually not at birth. Prescription ... not present at birth, many Lowe Syndrome boys develop kidney problems at approximately one year of age .... Medications can be prescribed to replace the lost substances. Cause Lowe syndrome is a genetic ... 5 phosphatase is not produced. This is the underlying cause of Lowe syndrome. The gene has been mapped ... links http www.lowesyndrome.org Lowe Syndrome Association Official Website http www.lowetrust.com U.K. Lowe Syndrome Trust http www.ncbi.nlm.nih.gov bookshelf br.fcgi?book gene&part lowe GeneReview NIH UW entry on Lowe Syndrome http www.sindromelowes.es Asociaci n Espa ola de S ndrome de Lowe Amino ... recessive disorders es S ndrome de Lowe fr Syndrome de Lowe pl Zesp Lowe a pt S ndrome de Lowe ru simple Oculocerebrorenal syndrome fi Lowen oireyhtym ... 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
, the following disorders should be considered in the differential diagnosis Baller Gerold SyndromeFanconi ...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 ... 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
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
The Immunity Syndrome may refer to The Immunity Syndrome Space 1999 The Immunity Syndrome Space 1999 , an episode of Space 1999 The Immunity Syndrome Star Trek The Immunity Syndrome Star Trek , a second season episode of Star Trek The Original Series first broadcast January 19, 1968 disambig ... 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
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
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 NCI cancer dict oncology stub Multiple abnormalities ... 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
Infobox Television episode Title The Ferguson Syndrome Series Miracles TV series Miracles Image Image Miracles pilot screenshot.jpg 300px Caption Tommy Ferguson looks at the blood writing on Paul Callan s broken windshield Season 1 Episode 1 Airdate January 27, 2003 Production 101 Writer Richard Hatem br Michael Petroni Director Matt Reeves Guests Jacob Smith actor Jacob Smith br Tamara Taylor br Scott Allan Campbell br Phyllis Lyons br Sybil Temchen Episode list Prev None Next The Friendly Skies The Ferguson Syndrome is the first episode of the television series Miracles TV series Miracles . Its only airing in the U.S. was on January 27, 2003 on American Broadcasting Company ABC . It first aired on Canada s VisionTV on October 3, 2003. Synopsis The series begins at the grave of one Sister Alice Fulton 1834 1861 . Workers are exhuming the bodies there in the cemetery, preparing them to be moved before the end of the year. After an accident, Alice s coffin spills open in front of a trapped worker, revealing the corpse of a woman whose eyes are as white as snow, and whose body has simply not decayed one day since her death over 140 years ago. Paul Callan is dispatched to investigate. The absence ... suffers from Fanconi anemia , a rare genetic blood disorder with no cure. However, Tommy is claimed ... Syndrome was the first produced episode of Miracles TV series Miracles . The pilot was originally ... date 2005 title Miracles complete series DVD commentary for the episode The Ferguson Syndrome ... The Ferguson Syndrome medium DVD publisher Shout Factory ref Reeves was immediately intrigued with the idea ... syndrome episode 224857 summary.html?tag ep list ep title 1 TV.com . ref References Reflist 2 External links http www.tv.com miracles the ferguson syndrome episode 224857 summary.html?tag ep list ep title 1 The Ferguson Syndrome at TV.com http www.imdb.com title tt0648897 The Ferguson Syndrome at the Internet Movie Database DEFAULTSORT Ferguson Syndrome Category Miracles episodes ... 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
Infobox disease Name Myelodysplastic syndrome Image Caption DiseasesDB 8604 ICD10 ICD10 D 46 d 37 ICD9 ... to a few years. ref DorlandsDict eight 000104509 myelodysplastic syndrome ref The myelodysplastic ... such patients are now considered to have acute leukemia. 5q syndrome, typically seen in older ... overlap syndromes. 5q syndrome Myelodysplasia unclassifiable seen in those cases of megakaryocyte ... understood. Myelodysplastic syndrome unclassified WHO proposed criteria for diagnosis ... Myelodysplastic Spleen.JPG thumb Enlarged spleen due to myelodysplastic syndrome CT scan coronal section ... hemorrhaging resulting in purpura or petechia ref Myelodysplastic Syndrome. The Leukemia & Lymphoma ... immunosuppressive treatment and Fanconi s anemia can evolve into MDS. MDS is thought to arise from ... 5q syndrome Since at least 1974, the loss of the long arm of chromosome 5 has been associated with dysplastic ... with the 5q syndrome , ref name pmid15703420 cite journal author List A, Kurtin S, Roe DJ, et al. title ... , along with a dysplastic bone marrow, is required to diagnose a myelodysplastic syndrome ... an adult female with a myelodysplastic syndrome related to radiotherapy and chemotherapy for Hodgkin ... than myelodysplastic process. Children with Down syndrome are susceptible to MDS, and a family history may indicate a hereditary form of sideroblastic anemia or Fanconi anemia . The average age at diagnosis ... s syndrome sideroblastic anemia , Jordans anomaly vacuolization in all cell lines may be seen in Chanarin Dorfman syndrome , ALA aminolevulinic acid enzyme deficiency, and other more esoteric enzyme deficiencies ..., a DNA hypomethylating agent, for the treatment of high risk myelodysplastic syndrome a multicenter ... R, et al. title Cytogenetic responses in high risk myelodysplastic syndrome following low dose treatment ... trial of azacitidine in patients with the myelodysplastic syndrome a study of the cancer and leukemia ... BL, et al. title Further analysis of trials with azacitidine in patients with myelodysplastic syndrome ... 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
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
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
Wikify date December 2010 expert subject Genetics date August 2008 Infobox disease Name Hydrolethalus syndrome Image Alt Caption DiseasesDB 34380 ICD10 ICD9 ICDO OMIM 236680 MedlinePlus eMedicineSubj eMedicineTopic MeshID GeneReviewsID GeneReviewsName Hydrolethalus syndrome less commonly referred to as Salonen Herva Norio syndrome is a rare genetic disorder that causes improper fetal development, resulting in birth defects and often stillbirth . ref http www.enotes.com genetic disorders encyclopedia hydrolethalus syndrome ref It is associated with HYLS1 mutations. Symptoms Hydrolethalus syndrome can cause heart and brain defects, a cleft lip or palate, an abnormally shaped nose or jaw, or incomplete lung development. These defects are typically serious enough to cause stillbirth or death within a few days of birth. References reflist DEFAULTSORT Hydrolethalus Syndrome Category Congenital disorders disease stub ... more details
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
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