[{"@context":"http:\/\/schema.org\/","@type":"BlogPosting","@id":"https:\/\/wiki.edu.vn\/en\/wiki21\/meckel-gruber-syndrome-wikipedia\/#BlogPosting","mainEntityOfPage":"https:\/\/wiki.edu.vn\/en\/wiki21\/meckel-gruber-syndrome-wikipedia\/","headline":"Meckel\u2013Gruber syndrome &#8211; Wikipedia","name":"Meckel\u2013Gruber syndrome &#8211; Wikipedia","description":"before-content-x4 From Wikipedia, the free encyclopedia after-content-x4 Medical condition Meckel syndrome Other names Meckel\u2013Gruber syndrome, Gruber syndrome, Dysencephalia splanchnocystica Embryos","datePublished":"2016-12-27","dateModified":"2016-12-27","author":{"@type":"Person","@id":"https:\/\/wiki.edu.vn\/en\/wiki21\/author\/lordneo\/#Person","name":"lordneo","url":"https:\/\/wiki.edu.vn\/en\/wiki21\/author\/lordneo\/","image":{"@type":"ImageObject","@id":"https:\/\/secure.gravatar.com\/avatar\/c9645c498c9701c88b89b8537773dd7c?s=96&d=mm&r=g","url":"https:\/\/secure.gravatar.com\/avatar\/c9645c498c9701c88b89b8537773dd7c?s=96&d=mm&r=g","height":96,"width":96}},"publisher":{"@type":"Organization","name":"Enzyklop\u00e4die","logo":{"@type":"ImageObject","@id":"https:\/\/wiki.edu.vn\/wiki4\/wp-content\/uploads\/2023\/08\/download.jpg","url":"https:\/\/wiki.edu.vn\/wiki4\/wp-content\/uploads\/2023\/08\/download.jpg","width":600,"height":60}},"image":{"@type":"ImageObject","@id":"https:\/\/upload.wikimedia.org\/wikipedia\/commons\/thumb\/9\/99\/Embryos_with_mutation_in_Mks1krc%2C_a_cause_of_Meckel_syndrome.png\/300px-Embryos_with_mutation_in_Mks1krc%2C_a_cause_of_Meckel_syndrome.png","url":"https:\/\/upload.wikimedia.org\/wikipedia\/commons\/thumb\/9\/99\/Embryos_with_mutation_in_Mks1krc%2C_a_cause_of_Meckel_syndrome.png\/300px-Embryos_with_mutation_in_Mks1krc%2C_a_cause_of_Meckel_syndrome.png","height":"288","width":"300"},"url":"https:\/\/wiki.edu.vn\/en\/wiki21\/meckel-gruber-syndrome-wikipedia\/","wordCount":3738,"articleBody":"     (adsbygoogle = window.adsbygoogle || []).push({});before-content-x4From Wikipedia, the free encyclopedia       (adsbygoogle = window.adsbygoogle || []).push({});after-content-x4Medical conditionMeckel syndromeOther namesMeckel\u2013Gruber syndrome, Gruber syndrome, Dysencephalia splanchnocysticaEmbryos with mutation in MKS1KRC, a cause of Meckel syndrome.SpecialtyMedical genetics\u00a0Meckel-Gruber syndrome is a rare, lethal ciliopathic genetic disorder, characterized by renal cystic dysplasia, central nervous system malformations (occipital encephalocele), polydactyly (postaxial), hepatic developmental defects, and pulmonary hypoplasia due to oligohydramnios.[citation needed]Meckel\u2013Gruber syndrome is named for Johann Meckel and Georg Gruber.[1][2][3]       (adsbygoogle = window.adsbygoogle || []).push({});after-content-x4Table of ContentsPathophysiology[edit]Relation to other rare genetic disorders[edit]Diagnosis[edit]Management[edit]Prognosis[edit]Incidence[edit]References[edit]External links[edit]Pathophysiology[edit]Meckel\u2013Gruber syndrome (MKS) is an autosomal recessive lethal malformation. Recently, two MKS genes, MKS1 and MKS3, have been identified. A study done recently has described the cellular, sub-cellular and functional characterization of the novel proteins, MKS1 and meckelin, encoded by these genes.[4] The malfunction of this protein production is mainly responsible for this lethal disorder.[citation needed]Relation to other rare genetic disorders[edit]Recent findings in genetic research have suggested that a large number of genetic disorders, both genetic syndromes and genetic diseases, that were not previously identified in the medical literature as related, may be, in fact, highly related in the genetypical root cause of the widely varying, phenotypically-observed disorders.  Thus, Meckel\u2013Gruber syndrome is a ciliopathy.  Other known ciliopathies include primary ciliary dyskinesia, Bardet\u2013Biedl syndrome, polycystic kidney and liver disease, nephronophthisis, Alstr\u00f6m syndrome, and some forms of retinal degeneration.[5]The MKS1 gene has been identified as being associated with a ciliopathy.[6]       (adsbygoogle = window.adsbygoogle || []).push({});after-content-x4Diagnosis[edit]Dysplastic kidneys are prevalent in over 95% of all identified cases. When this occurs, microscopic cysts develop within the kidney and slowly destroy it, causing it to enlarge to 10 to 20 times its original size. The level of amniotic fluid within the womb may be significantly altered or remain normal, and a normal level of fluid should not be criteria for exclusion of diagnosis.[citation needed]Occipital encephalocele is present in 60% to 80% of all cases, and post-axial polydactyly is present in 55% to 75% of the total number of identified cases. Bowing or shortening of the limbs are also common.[citation needed]Finding at least two of the three phenotypic features of the classical triad, in the presence of normal karyotype, makes the diagnosis solid. Regular ultrasounds and pro-active prenatal care can usually detect symptoms early on in a pregnancy.[citation needed]Management[edit]There is no cure to the disease. Treatment is symptomatic and to make the baby as comfortable as possible.[7]Prognosis[edit]The disease is lethal. Most infants that are not stillborn with Meckel syndrome die within hours to days of birth.[8] The longest survival time reported in medical literature is 28 months.[9]Incidence[edit]While not precisely known, it is estimated that the general rate of incidence, according to Bergsma,[10] for Meckel syndrome is 0.02 per 10,000 births. According to another study done six years later, the incidence rate could vary from 0.07 to 0.7 per 10,000 births.[11]This syndrome is a Finnish heritage disease.  Its frequency is much higher in Finland, where the incidence is as high as 1.1 per 10,000 births. It is estimated that Meckel syndrome accounts for 5% of all neural tube defects there.[12] The Leicestershire Perinatal Mortality Survey for the years 1976 to 1982 had found high incidences[spelling?] of Meckel syndrome in Gujarati Indian immigrants.[13]References[edit]^ synd\/2055 at Who Named It?^ J. F. Meckel. Beschreibung zweier durch sehr \u00e4hnliche Bildungsabweichungen entstellter Geschwister. Deutsches Archiv f\u00fcr Physiologie, 1822, 7: 99\u2013172.^ G. B. Gruber. Beitr\u00e4ge zur Frage &#8220;gekoppelter&#8221; Missbildungen (Akrocephalossyndactylie und Dysencephalia splancnocystica. Beitr path Anat, 1934, 93: 459\u2013476.^ Dawe HR, Smith UM, Cullinane AR, Gerrelli D, Cox P, Badano JL, Blair-Reid S, Sriram N, Katsanis N, Attie-Bitach T, Afford SC, Copp AJ, Kelly DA, Gull K, Johnson CA (2007). &#8220;The Meckel\u2013Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation&#8221;. Human Molecular Genetics. 16 (2): 173\u2013186. doi:10.1093\/hmg\/ddl459. PMID\u00a017185389.^ Badano, Jose L.; Norimasa Mitsuma; Phil L. Beales; Nicholas Katsanis (Sep 2006). &#8220;The Ciliopathies\u00a0: An Emerging Class of Human Genetic Disorders&#8221;. Annual Review of Genomics and Human Genetics. 7: 125\u2013148. doi:10.1146\/annurev.genom.7.080505.115610. PMID\u00a016722803.^ Kytt\u00e4l\u00e4, Mira (May 2006). &#8220;Identification of the Meckel Syndrome Gene (MKS1) Exposes a Novel Ciliopathy&#8221; (PDF). National Public Health Institute, Helsinki. Archived from the original (PDF) on 2006-07-21. Retrieved 2008-07-06. ^ &#8220;Meckel Syndrome&#8221;. NORD (National Organization for Rare Disorders). Retrieved 2019-12-02.^ Kheir, Abdelmoneim E. M.; Imam, Abdelmutalab; Omer, Ilham M.; Hassan, Ibtsama M.A.; Elamin, Sara A.; Awadalla, Esra A.; Gadalla, Mohammed H.; Hamdoon, Tagwa A. (2012). &#8220;Meckel-Gruber syndrome: A rare and lethal anomaly&#8221;. Sudanese Journal of Paediatrics. 12 (1): 93\u201396. ISSN\u00a00256-4408. PMC\u00a04949827. PMID\u00a027493335.^ Barisic, Ingeborg; Boban, Ljubica; Loane, Maria; Garne, Ester; Wellesley, Diana; Calzolari, Elisa; Dolk, Helen; Addor, Marie-Claude; Bergman, Jorieke EH; Braz, Paula; Draper, Elizabeth S (June 2015). &#8220;Meckel\u2013Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe&#8221;. European Journal of Human Genetics. 23 (6): 746\u2013752. doi:10.1038\/ejhg.2014.174. ISSN\u00a01018-4813. PMC\u00a04795048. PMID\u00a025182137.^ Bergsma, D. (1979). &#8220;Birth Defects&#8221;. Atlas and Compendium. London: Macmillan Press.^ Salonen, R.; Norio, R.; Reynolds, James F. (1984). &#8220;The Meckel syndrome: Clinicopathological Findings in 67 Patients&#8221;. American Journal of Medical Genetics. 18 (4): 671\u2013689. doi:10.1002\/ajmg.1320180414. PMID\u00a06486167.^ Nyberg, D. A.;  et\u00a0al. (1990). &#8220;Meckel\u2013Gruber syndrome; Importance of Prenatal Diagnosis&#8221;. Journal of Ultrasound in Medicine. 9 (12): 691\u2013696. doi:10.7863\/jum.1990.9.12.691. PMID\u00a02277397. S2CID\u00a025658017.^ Young, I. D.; Rickett, A. B.; Clarke, M. (1985-08-01). &#8220;High incidence of Meckel&#8217;s syndrome in Gujarati Indians&#8221;. Journal of Medical Genetics. 22 (4): 301\u2013304. doi:10.1136\/jmg.22.4.301. ISSN\u00a00022-2593. PMC\u00a01049454. PMID\u00a04045959.External links[edit]       (adsbygoogle = window.adsbygoogle || []).push({});after-content-x4"},{"@context":"http:\/\/schema.org\/","@type":"BreadcrumbList","itemListElement":[{"@type":"ListItem","position":1,"item":{"@id":"https:\/\/wiki.edu.vn\/en\/wiki21\/#breadcrumbitem","name":"Enzyklop\u00e4die"}},{"@type":"ListItem","position":2,"item":{"@id":"https:\/\/wiki.edu.vn\/en\/wiki21\/meckel-gruber-syndrome-wikipedia\/#breadcrumbitem","name":"Meckel\u2013Gruber syndrome &#8211; Wikipedia"}}]}]