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*  Patau syndrome
... 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 ... However, unlike Edwards syndrome and Down syndrome, the quad screen does not provide a reliable means of screening for this ... "National Down Syndrome Cytogenetic Register Annual Reports 2008/09". Trisomy 13 at WebMD "Trisomy 13 (Patau Syndrome)" SickKids ...
*  Epidemiology of metabolic syndrome
Metabolic syndrome (also known as the cardiometabolic syndrome) refers to a cluster of related risk factors for cardiovascular ... According to the IDF, metabolic syndrome was prevalent in 16.1% of the Saudi Arabian population. In Tunisia, metabolic syndrome ... One 25-year prospective study found that, compared with children without the syndrome, those with the metabolic syndrome are 14 ... 2008). "Metabolic syndrome and incident diabetes: current state of the evidence". Diabetes Care. 31: 1898-1904. doi:10.2337/ ...
*  Nance-Horan syndrome
... is a rare X linked syndrome characterized by congenital cataract leading to profound vision loss, ... This syndrome is due to mutations in the Nance Horan gene (NHS) which is located on the short arm of the X chromosome (Xp22.13 ... This syndrome was first described by Margaret B. Horan and Walter Elmore Nance in 1974. Walpole, I R; Hockey, A; Nicoll, A ( ... Bixler, D; Higgins, M; Hartsfield Jr, J (1984). "The Nance-Horan syndrome: A rare X-linked ocular-dental trait with expression ...
*  3q29 microdeletion syndrome
... is a rare genetic disorder resulting from the deletion of a segment of chromosome 3. This syndrome ... Koochek M (2006). "Clinical and molecular characterization of a new syndrome: the case of 3q29 microdeletion syndrome". Clin ... July 2005). "3q29 Microdeletion Syndrome: Clinical and Molecular Characterization of a New Syndrome". Am. J. Hum. Genet. 77 (1 ... The clinical phenotype of 3q29 microdeletion syndrome is variable. Clinical features can include mild/moderate mental ...
*  Congenital nephrotic syndrome
... is a very rare form of nephrotic syndrome. It occurs predominantly in families of Finnish origin ... 256300 Congenital nephrotic syndrome, Finnish type; Congenital nephrotic syndrome 1 at NIH's Office of Rare Diseases OMIM: ... 609049 Pierson syndrome; Microcoria and congenital nephrotic syndrome at NIH's Office of Rare Diseases. ... Congenital nephrotic syndrome is an inherited disorder characterized by protein in the urine and swelling of the body. ...
*  National Down Syndrome Congress
... for children with and without Down syndrome. The Down Syndrome Medical Interest Group -- USA usually holds its annual symposium ... The National Down Syndrome Congress (NDSC) is a national not-for-profit organization that provides individuals, families, and ... The convention brings in world-renowned researchers and experts on Down syndrome and education to speak to parents about a ... The NDSC provides free, up-to-date information concerning all aspects of life with Down syndrome. The organization also ...
*  Pashayan syndrome
... also known as Pashayan-Prozansky Syndrome, and blepharo-naso-facial syndrome is a rare syndrome. Facial ... A subset of Pashayan syndrome has also been described, known as "cerebrofacioarticular syndrome", "Van Maldergem syndrome'" or ... "Cerebro-facio-articular syndrome of Van Maldergem: confirmation of a new MR/MCA syndrome". Clinical genetics. 45 (3): 140-4. ... "Van Maldergem-Wetzburger-Verloes syndrome". Similar symptoms are noted in these cases as in Pashayan syndrome. "OMIM Entry - ...
*  Brushfield spots
They occur in 35-78% of newborn infants with Down syndrome. Brushfield spots tend to be obscured by pigmentation of the ... Sanez, R.B. (January 1999), "Primary care of infants and young children with Down syndrome", American Family Physician, 59 (2) ... Brushfield spots are more commonly found in Down syndrome patients of European descent than similarly affected children of ... November 2002), "Characteristic ocular findings in Asian children with Down syndrome", Nature, 16 (6) Krückmann, E. (1907), " ...
*  Complications of pregnancy
Gestational hypertension HELLP syndrome = Hemolytic anemia, Elevated liver enzymes and low platelet count. Incidence is ... Haram K, Svendsen E, Abildgaard U (Feb 2009). "The HELLP syndrome: clinical issues and management. A review" (PDF). BMC ... Multiples may become monochorionic, sharing the same chorion, with resultant risk of twin-to-twin transfusion syndrome. ... Ethanol during pregnancy can cause fetal alcohol syndrome and fetal alcohol spectrum disorder. Tobacco smoking and pregnancy, ...
*  Edwards syndrome
It is the second-most frequent condition due to a third chromosome at birth, after Down syndrome. Edwards syndrome occurs in ... "Prevalence and Incidence of Edwards Syndrome". Diseases Center-Edwards Syndrome. Adviware Pty Ltd. 2008-02-04. Archived from ... Edwards syndrome occurs in about one in 5,000 live births, but more conceptions are affected by the syndrome because the ... Edwards syndrome, also known as trisomy 18, is a genetic disorder caused by the presence of all, or part of a third copy of ...
*  Nephrotic syndrome
Cushing's Syndrome The treatment of nephrotic syndrome can be symptomatic or can directly address the injuries caused to the ... An increase in the latter can cause the hyperlipidemia associated with this syndrome. Nephrotic syndrome has many causes and ... A broad classification of nephrotic syndrome based on underlying cause: Nephrotic syndrome is often classified histologically: ... called secondary nephrotic syndrome. Primary causes of nephrotic syndrome are usually described by their histology: Minimal ...
*  Alpha-fetoprotein
Rosen T, D'Alton ME (December 2005). "Down syndrome screening in the first and second trimesters: what do the data show?". ...
*  Syndrome
... autonomic syndrome, hostility syndrome, manic syndrome, apathy syndrome. Also well known Münchausen syndrome, Ganser syndrome, ... oneiroid syndrome), hysteric syndrome, neurotic syndrome, Korsakoff's syndrome, hypochondriacal syndrome, paranoiac syndrome, ... asthenic syndrome, obsessive syndrome, emotional syndromes (for example, manic syndrome, depressive syndrome), Cotard's ... This is especially true of inherited syndromes. For example, Down syndrome, Wolf-Hirschhorn syndrome, and Andersen syndrome are ...
*  Postcholecystectomy syndrome
Chronic diarrhea in postcholecystectomy syndrome is a type of bile acid diarrhea (type 3). This can be treated with a bile acid ... Postcholecystectomy syndrome treatment depends on the identified violations that led to it. Typically, the patient is ... Postcholecystectomy syndrome describes the presence of abdominal symptoms after surgical removal of the gallbladder ( ... Symptoms of postcholecystectomy syndrome may include: Dyspepsia, nausea, and vomiting. Flatulence, bloating, and diarrhea. ...
*  Kallmann syndrome
... is a form of a group of conditions termed hypogonadotropic hypogonadism. Kallmann syndrome has an additional ... Kallmann syndrome was first described by name in a paper published in 1944 by Franz Josef Kallmann, a German-American ... Kallmann syndrome was first described by name in a paper published in 1944 by Franz Josef Kallmann, a German-American ... Kallmann syndrome (KS) is a genetic disorder that prevents a person from starting or fully completing puberty. If left ...
*  Avellis syndrome
... is a neurological disorder characterized by a peculiar form of alternating paralysis. There is paralysis of ... Horner's syndrome may be associated. In the original description, the vagus and glossopharyngeal nerves were involved; ... Krasnianski, M; Neudecker, S; Schlüter, A; Zierz, S (Dec 2003). "Avellis' Syndrome in Brainstem Infarctions". Fortsch. Neurol. ...
*  Rowell's syndrome
... was described by Professor Neville Rowell and colleagues in 1963. Patients with the syndrome have lupus ... Rowell's syndrome has been reported to occur with all subtypes of LE (systemic, acute, subacute or discoid). Childhood discoid ... Duarte AF, Mota A, Pereira M, Baudrier T, Azevedo F (2008). "Rowell syndrome - case report and review of the literature". ... Lee A, Batra P, Furer V, Cheung W, Wang N, Franks A (2009). "Rowell syndrome (systemic lupus erythematosus + erythema ...
*  IPEX syndrome
"IPEX syndrome". Genetics Home Reference. Retrieved 2017-04-16. Reference, Genetics Home. "FOXP3 gene". Genetics Home Reference ... IPEX (immunodysregulation polyendocrinopathy enteropathy X-linked) syndrome is a rare disease linked to the dysfunction of the ... Some of the symptoms and signs of IPEX syndrome are the following: Lymphadenopathy Eczema Hypothyroidism Diarrhea ... Bacchetta, Rosa; Barzaghi, Federica; Roncarolo, Maria-Grazia (25 February 2016). "From IPEX syndrome to FOXP3 mutation: a ...
*  Mungan syndrome
... is first described in 2003 by Mungan Z. et al. as an autosomal recessively inherited disorder in a Turkish ... "Mungan Syndrome". National Center for Biotechnology Information. August 24, 2008. "Familial visceral myopathy with pseudo- ... Family members of this syndrome had also mega duodenum, Barrett's esophagus, different cardiac abnormalities and some other ... CIIP is a rare and severe clinical syndrome characterized by symptoms and signs of intestinal occlusion, in the absence of any ...
*  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. PMID ...
*  Ogilvie syndrome
The high mortality rate is likely a measure that this syndrome is seen in critically ill patients, rather than this syndrome ... Ogilvie syndrome is the acute dilation of the colon in the absence of any mechanical obstruction in severely ill patients. ... A new clinical syndrome". Dis. Colon Rectum. 30 (12): 984-7. doi:10.1007/BF02554291. PMID 3319452. Sir William Heneage Ogilvie ... Ogilvie syndrome may occur after surgery, especially following coronary artery bypass surgery and total joint replacement. ...
*  Urofacial syndrome
... : A subset of neurogenic bladder dysfunction syndromes?. Indian J Urol 2010;26:582-4 www.uhseast.com. ... Early detection of this syndrome is possible through the peculiar faces that children present. Urofacial Syndrome occurs due to ... The inverted facial expression presented by children with this syndrome allows for early detection of the syndrome, this ... Urofacial (Ochoa) syndrome received the Ochoa name because of the first person to describe it back in 1987, Bernardo Ochoa. ...
*  Meige's syndrome
... is a type of dystonia. It is also known as Brueghel's syndrome and oral facial dystonia. It is actually a ... In some cases Meige's syndrome can be reversed when it is caused by medication. It has been theorized that it is related to ... TMDiary (Journal of the American Academy of Craniofacial Pain), Vol 21 No.1 2008, pp.28-33 Tourettes syndrome: a pilot study ... The lack of prompt response to anticholinergic drugs in cases of idiopathic Meige's syndrome is important in differentiating it ...
*  Asperger syndrome
Wing L (1998). "The history of Asperger syndrome". In Schopler E, Mesibov GB, Kunce LJ. Asperger syndrome or high-functioning ... Wing L (1991). "The relationship between Asperger's syndrome and Kanner's autism". In Frith U. Autism and Asperger syndrome. ... The syndrome is named after the Austrian pediatrician Hans Asperger who, in 1944, described children in his practice who lacked ... Individuals with Asperger syndrome may have signs or symptoms that are independent of the diagnosis, but can affect the ...
*  Reynolds syndrome
In some patients this syndrome has also been associated with Sjögren's syndrome and hemolytic anemia. Typical clinical features ... The syndrome, a special case of scleroderma, is named after the American physician, Telfer B. Reynolds, MD (1921-2004), who ... Reynolds syndrome is a rare secondary laminopathy, consisting of the combination of primary biliary cirrhosis and progressive ... New syndrome. American Journal of Medicine, New York, 1971, 50 (3): 302-312. Volker Stadie, Johannes Wohlrab, Wolfgang ...