Kirk, Edwin P.; Scurr, Ingrid; van Haaften, Gijs; van Haelst, Mieke M.; Nichols, Colin G.; Williams, Maggie; Smithson, Sarah F ... "Cantu syndrome , Genetic and Rare Diseases Information Center (GARD) - an NCATS Program". rarediseases.info.nih.gov. Retrieved ... Cantú syndrome is a rare condition characterized by hypertrichosis, osteochondrodysplasia, and cardiomegaly. Less than 50 cases ... "Cantú syndrome". Genetics Home Reference. Retrieved 2017-03-23. Pubchem. "Prostaglandin E2 , C20H32O5 - PubChem". pubchem.ncbi. ...

May, Melanie; Hwang, Kyu-Seok; Miles, Judith; Williams, Charlie; Niranjan, Tejasvi; Kahler, Stephen G.; Chiurazzi, Pietro; ... In some instances in the history of the family in which the syndrome was first described, the syndrome was present at birth. ... "Wieacker Syndrome - NORD (National Organization for Rare Disorders)". "OMIM Entry # 314580 - WIEACKER-WOLFF SYNDROME; WRWF". ... Wieacker syndrome is caused by a mutation in ZC4H2 on the X chromosome (Xq13-q21). There are five affected families, each with ...

Williams, Donald E; Litzinger, Kristi; Perrault, Jean (2003), "Rumination syndrome in children and adolescents: diagnosis, ... Depression has also been linked with rumination syndrome, though its effects on rumination syndrome are unknown. Acid erosion ... PMID 16678560 ICD-10 entries for rumination syndrome - F98.2, retrieved 2009-08-10 ICD-10 entries for rumination syndrome - ... Diagnosis of rumination syndrome is non-invasive and based on a history of the individual. Treatment is promising, with upwards ...

Williams C (2005) "Neurological aspects of the Angelman syndrome" Brain & Development 27: 88-94 Laan, Laura A.E.M.; Vein, Alla ... palsy Rett syndrome Mowat-Wilson syndrome Adenylosuccinate lyase deficiency Pitt-Hopkins syndrome Phelan-McDermid syndrome ... Williams, CA; Frias JL (1982). "The Angelman ("happy puppet") syndrome". Am J Med Genet. 11 (4): 453-60. doi:10.1002/ajmg. ... Williams, Charles. "Harry Angelman and the History of AS". Stay informed. US: Angelman Syndrome Foundation. Archived from the ...

Schorge J, Schaffer J, Halvorson L, Hoffman B, Bradshaw K, Cunningham F (2008). Williams Gynecology. New York: McGraw-Hill ... It is also known as Fritsch syndrome, or Fritsch-Asherman syndrome. It is often characterized by a decrease in flow and ... "How Asherman's syndrome causes infertility or miscarriages". Blog: Asherman's Syndrome Watch. 19 February 2010. (awareness, ... Wikimedia Commons has media related to Asherman's syndrome. "The secret syndrome leaving women infertile". Daily Mirror. UK. 29 ...

Mortada R, Williams T (August 2015). "Metabolic Syndrome: Polycystic Ovary Syndrome". FP Essentials (Review). 435: 30-42. PMID ... Polycystic ovary syndrome, or polycystic ovarian syndrome (PCOS), is the most common endocrine disorder in women of ... Bremer AA (October 2010). "Polycystic ovary syndrome in the pediatric population". Metabolic Syndrome and Related Disorders. 8 ... Devi, T (2018), "Lifestyle Modifications in Polycystic Ovarian Syndrome", Decoding Polycystic Ovarian Syndrome (PCOS), Jaypee ...

This gene is located at chromosome 7p13 which is close to the Williams Beuren syndrome chromosome region 7q11.23. GRCh38: ... Merla G, Ucla C, Guipponi M, Reymond A (May 2002). "Identification of additional transcripts in the Williams-Beuren syndrome ...

This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at ... This gene is one of several contiguous genes located at 7q11.23 deleted in Williams Beuren syndrome, the others including: ... Merla G, Ucla C, Guipponi M, Reymond A (May 2002). "Identification of additional transcripts in the Williams-Beuren syndrome ... DnaJ homolog subfamily C member 30 (DNAJC30), also known as Williams Beuren syndrome chromosome region 18 protein (WBSCR18), is ...

It can be associated with Williams syndrome and Donohue syndrome (leprechaunism). K.G, Mathew (2 November 2018). Medicine: Prep ...

Other rare genetic causes include Young's syndrome and Williams-Campbell syndrome. Tracheobronchomegaly, or Mournier-Kuhn ... Kwon, K. Y.; Myers, J. L.; Swensen, S. J.; Colby, T. V. (March 1995). "Middle lobe syndrome: a clinicopathological study of 21 ... WILLIAMS H, CAMPBELL P (April 1960). "Generalized Bronchiectasis associated with Deficiency of Cartilage in the Bronchial Tree ... Hendry, W. F.; A'Hern, R. P.; Cole, P. J. (18-25 December 1993). "Was Young's syndrome caused by exposure to mercury in ...

Williams syndrome, pseudoxanthoma elasticum, CYP24A1 mutation (adult / infantile), SLC34A1 mutation Miscellaneous; ... Norman AW, Myrtle JF, Midgett RJ, Nowicki HG, Williams V, Popják G (July 1971). "1,25-dihydroxycholecalciferol: identification ...

This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at ... Merla G, Ucla C, Guipponi M, Reymond A (Jun 2002). "Identification of additional transcripts in the Williams-Beuren syndrome ... Doll A, Grzeschik KH (Apr 2002). "Characterization of two novel genes, WBSCR20 and WBSCR22, deleted in Williams-Beuren syndrome ...

This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at ... Merla G, Ucla C, Guipponi M, Reymond A (Jun 2002). "Identification of additional transcripts in the Williams-Beuren syndrome ... Abhydrolase domain-containing protein 11 also known as Williams-Beuren syndrome chromosomal region 21 protein (WBSCR21) is an ...

Feature salience and unfamiliar face processing in Williams syndrome and autism". The Quarterly Journal of Experimental ... Wilmer, J. B.; Germine, L.; Chabris, C. F.; Chatterjee, G.; Williams, M.; Loken, E.; Nakayama, K.; Duchaine, B. (16 March 2010 ... Awasthi B; Friedman J; Williams, MA (2011). "Processing of low spatial frequency faces at periphery in choice reaching tasks". ... Early research focused on genetic disorders which impair facial recognition abilities, such as Turner syndrome, which results ...

de Brouwer, Arjan P. M.; Williams, Kelly L.; Duley, John A.; van Kuilenburg, André B. P.; Nabuurs, Sander B.; Egmont-Petersen, ... Rare genetic syndromes, Syndromes affecting muscles, Syndromes affecting the nervous system, Syndromes with sensorineural ... Males with Arts syndrome do not reproduce. Charcot-Marie-Tooth disease-5, Arts syndrome and X-linked nonsyndromic sensorineural ... Arts syndrome is caused by a loss of function mutation in the PRPS1 gene. The PRPS1 gene codes for the enzyme phosphoribosyl ...

Lippincott Williams & Wilkins. p. 156. ISBN 9780781747073. Reiter S, Gavish A, Winocur E, Emodi-Perlman A, Eli I (2006). " ... Trotter's syndrome is a cluster of symptoms associated with certain types of advanced nasopharyngeal carcinoma. The cause of ... Van Hassel HJ, Topping JW (July 1977). "Trotter's syndrome. A review". Oral Surg. Oral Med. Oral Pathol. 44 (1): 125-7. doi: ... v t e (Articles with short description, Short description matches Wikidata, Syndromes affecting hearing, All stub articles, ...

Lippincott Williams & Wilkins. pp. 50-6. ISBN 978-0-7817-5942-7. Carney Complex at eMedicine (Wikipedia articles needing ... syndrome, NAME (nevi, atrial myxoma, myxoid neurofibromas, and ephelides) syndrome and Carney syndrome (atrial, cutaneous and ... Tegumental angiomyxoma-neurothekeoma (TAN syndrome) is a syndrome, an acronym, and eponym[citation needed] proposed by ... Neurothekeoma syndrome (TAN syndrome)". Clinics and Practice. 1 (3): e67. doi:10.4081/cp.2011.e67. PMC 3981382. PMID 24765328. ...

Krasny L, Williams BJ, Provencal S, Ozonoff S (January 2003). "Social skills interventions for the autism spectrum: essential ... Wing L (1998). "The history of Asperger syndrome". In Schopler E, Mesibov GB, Kunce LJ (eds.). Asperger syndrome or high- ... leading some of those diagnosed with Asperger's Syndrome to instead refer to their condition as 'Sukhareva's Syndrome', in ... In 2013 Asperger Syndrome was indeed eliminated as a separate diagnosis in DSM-5.) In a 2002 paper, Simon Baron-Cohen wrote of ...

Lippincott Williams & Wilkins. ISBN 9781469887364. Scholia has a topic profile for Nephritic syndrome. (CS1 maint: location ... nephritic syndrome was the second most common clinical syndrome at 21.9% (nephrotic syndrome was 52.3%) "acute nephritic ... Lippincott Williams & Wilkins. pp. 144-145. ISBN 9780781796194. "Acute nephritic syndrome: MedlinePlus Medical Encyclopedia". ... This syndrome has numerous underlying causes that can also cause nephritic syndrome, so this may be more of an association than ...

Williams RC (1961). "Aortic stenosis and unexplained gastrointestinal bleeding". Archives of Internal Medicine. 108 (6): 859-63 ... Heyde's syndrome is a syndrome of gastrointestinal bleeding from angiodysplasia in the presence of aortic stenosis. It is named ... Syndromes affecting the heart, Syndromes affecting the gastrointestinal tract). ... Finally, Heyde's syndrome can be confirmed using blood tests for vWD-2A, although traditional blood tests for von Willebrand ...

Williams, G. M.; Brady, R. (2019). "Patau Syndrome". StatPearls. StatPearls. PMID 30855930. "Patau's Syndrome (Trisomy 13)". ... Syndromes with microcephaly, Syndromes with cleft lip and/or palate, Syndromes affecting the nervous system, Syndromes with ... such as Down syndrome and Edwards syndrome), the risk of this syndrome in the offspring increases with maternal age at ... Patau syndrome is a syndrome caused by a chromosomal abnormality, in which some or all of the cells of the body contain extra ...

Lippincott Williams & Wilkins. p. 349. ISBN 9780781762755. Archived from the original on 2017-07-29. Torlincasi AM, Lopez RA, ... compartment syndrome that has returned after the initial treatment of secondary compartment syndrome). Compartment syndrome ... When compartment syndrome is caused by repetitive use of the muscles, it is known as chronic compartment syndrome (CCS). This ... In acute compartment syndrome, the pain will not be relieved with rest. In chronic exertional compartment syndrome the pain ...

Lippincott Williams & Wilkins. ISBN 978-0781785914. (CS1 maint: multiple names: authors list, Articles with short description, ... Geschwind syndrome, also known as Gastaut-Geschwind, is a group of behavioral phenomena evident in some people with temporal ... Only some people with epilepsy or temporal lobe epilepsy show features of Geschwind syndrome. Hypergraphia is the tendency for ... Waxman, Stephen G, MD; Geschwind, Norman, MD (1972). "The Interictal Behavior Syndrome of Temporal Lobe Epilepsy". Archives of ...

Lippincott Williams & Wilkins. pp. 129-131. ISBN 978-1-4511-8132-6. Archived from the original on 2017-01-23. "What is Down ... ALL in Down syndrome tends to have poorer outcomes than other cases of ALL in people without Down syndrome. In Down syndrome, ... The National Down Syndrome Society provides information regarding raising a child with Down syndrome. Down syndrome is the most ... Wikiquote has quotations related to Down syndrome. Down syndrome at Curlie Down's syndrome by the UK National Health Service ( ...

Williams, Simon R; Smith, Robert L; Cloosterman, Desiree; Christodoulou, John (2007). "Delineation of large deletions of the ... "About Rett syndrome - Rett Syndrome Diagnosis". rettsyndrome.org. International Rett Syndrome Foundation. Archived from the ... The incidence of Rett syndrome in males is unknown, partly owing to the low survival of male fetuses with the Rett syndrome- ... In this form of Rett syndrome, the patients have epilepsy before 5 months of age. The definition itself of the Rett syndrome ...

Michael S. Clement (1 June 2007). Blueprints Q & As for step 2. Lippincott Williams & Wilkins. pp. 71-. ISBN 978-0-7817-7820-6 ... Felty's syndrome (FS), also called Felty syndrome, is rare autoimmune disease characterized by the triad of rheumatoid ... Caplan's syndrome Still's disease or Still-Chauffard-Felty syndrome, the juvenile form Online Mendelian Inheritance in Man ( ... "CIGNA - Felty's Syndrome". Retrieved 2008-11-07. "HowStuffWorks "Felty's Syndrome - Medical Dictionary"". Archived from the ...

Lippincott Williams & Wilkins. p. 91. ISBN 9780781730631. Davis, Andrew S. (2012-12-20). Psychopathology of Childhood and ... Klinefelter syndrome XXYY syndrome XYYY syndrome XYYYY syndrome Turner syndrome Trisomy X "47,XYY syndrome". Genetics Home ... The XYY syndrome, if named after the discoverer, should rightly be termed Sandberg syndrome and not Jacobs syndrome although ... XYY syndrome, also known as Jacobs syndrome, is an aneuploid genetic condition in which a male has an extra Y chromosome. There ...

Magdesian, K. Gary; Williams, D. Colette; Aleman, Monica; LeCouteur, Richard A.; Madigan, John E. (2009-11-15). "Evaluation of ... Chédiak-Higashi syndrome, a similar syndrome including immunodeficiency and peripheral neuropathy Tietz syndrome, a condition ... Lethal white syndrome is a syndrome in horses caused by mutations in both copies of EDNRB. It leads to death from intestinal ... Also known as Shah-Waardenburg syndrome, or Waardenburg-Shah syndrome, type 4 has most of the same features as type 2 (i.e. no ...

Lippincott Williams & Wilkins. p. 62. ISBN 9780781750967. Retrieved 25 January 2018. v t e (Orphaned articles from January 2018 ... Wilkinson's syndrome (also known as Sclerotic pedicle sign) is a radiographic term which describes a unilaterally enlarged ... Lippincott Williams & Wilkins. p. 308. Retrieved 25 January 2018. Marchiori, Dennis (2014). Clinical Imaging - E-Book: With ... The characteristic radiographic feature of Wilkinson's syndrome is a missing pedicle with a thick, sclerotic contralateral ...

Williams & Wilkins. ISBN 9780683300758. "Atherosclerosis". American Heart Association. The American Heart Association. ... Alternating hemiplegia of childhood Benedikt syndrome Lateral pontine syndrome Medial medullary syndrome Weber's syndrome Lui, ... Lateral medullary syndrome is also called Wallenberg's syndrome, posterior inferior cerebellar artery (PICA) syndrome and ... The lateral medullary syndrome is the most common form of posterior ischemic stroke syndrome. It is estimated that there are ...