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meckel-gruber syndrome - rare genetic disorder affecting the brain, kidneys and liver Definition for Meckel-Gruber Syndrome Meckel syndrome (also known as Meckel-Gruber Syndrome, Gruber Syndrome, Dysencephalia Splanchnocystica) is a rare and lethal genetic disorder, characterized by renal cystic dysplasia, central nervous system malformations, and hepatic developmental defects. some common symptoms deformity skull delayed development face deformities lump or swelling on head some related diagnoses 1 - 7 of 7 diagnoses neurofibromatosis type 1 thalassemia intermedia hydrocephalus 11q deletion syndrome incontinenti pigmenti achromians thalassemia major hypopituitarism   more do i have 'Meckel-Gruber Syndrome'? In addition the following diagnostic tests might be need to help verify the diagnosis: diagnostic test search results for 'meckel-gruber syndrome' 1 - 5 of 11 diagnostic tests Molecular Genetic Studies Meckel-Gruber Syndrome and Molecular Genetic Studies Amniocentesis Meckel-Gruber Syndrome and Amniocentesis Chorionic Villus Sampling (CVS) Meckel-Gruber Syndrome and Chorionic Villus Sampling (CVS) Chromosomal analysis Meckel-Gruber Syndrome and Chromosomal analysis Abdominal MRI MRI of abdominal contents Meckel-Gruber Syndrome and Abdominal MRI Brain MRI Meckel-Gruber Syndrome and Brain MRI Magnetic Resonance Imaging (MRI) Prenatal Meckel-Gruber Syndrome and Magnetic Resonance Imaging (MRI) Prenatal Prenatal Ultrasound Ultrasound on the fetus before birth Meckel-Gruber Syndrome and Prenatal Ultrasound Ultrasonography kidneys ureter bladder Meckel-Gruber Syndrome and Ultrasonography kidneys ureter bladder Hepatic ultrasonography Meckel-Gruber Syndrome and Hepatic ultrasonography Developmental testing Meckel-Gruber Syndrome and Developmental testing for more please login, login is free (click to login) therapeutic procedures for 'Meckel-Gruber Syndrome'? Managing or treating a diseases should always be determined by a patients health care provider. Below is a list of associated therapeutic procedures or medications for Meckel-Gruber Syndrome: therapeutic procedure search results for 'meckel-gruber syndrome' rankings are computer generated. please consult your health care provider. medications search results for 'meckel-gruber syndrome' rankings are computer generated. please consult your health care provider. web search results for meckel-gruber syndrome Web (All)  |  Treatment  |  Drugs  |  Tests  |  Research  |  Diet Results 1 - 50 - Meckel-Gruber Syndrome A novel locus for Meckel-Gruber syndrome, MKS3, maps to chromosome 8q24. Meckel-Gruber syndrome (MKS), the most common monogenic cause of neural tube ... Syndrome. Substances: Membrane Proteins. Proteins. TMEM67 protein, human ... http://www.ncbi.nlm.nih.gov/pubmed/12384791   www.ncbi.nlm.nih.gov - summary MECKEL-GRUBER SYNDROME - Pedbase.org PEDBASE.org - The Pediatric Database - Detailed information of MECKEL-GRUBER SYNDROME ... also called Meckel Syndrome, Gruber Syndrome, Dysencephalia Splanchnocytica ... http://www.pedbase.org/m/meckel-gruber-syndrome   www.pedbase.org - summary The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. Joubert syndrome (JS) is an autosomal recessive disorder characterized by ... these phenotypic features can also be observed in Meckel-Gruber syndrome (MKS) ... http://www.ncbi.nlm.nih.gov/pubmed/17160906   www.ncbi.nlm.nih.gov - summary [Meckel-Gruber syndrome] The lethal Meckel-Gruber-Syndrome can be diagnosed prenatally during ultrasound ... Two case reports of Meckel-Gruber-Syndrome are given, which demonstrate the ... http://www.ncbi.nlm.nih.gov/pubmed/8767290?dopt=Abstract   www.ncbi.nlm.nih.gov - summary Meckel syndrome - Wikipedia, the free encyclopedia The Meckel?Gruber Syndrome proteins MKS1 and meckelin interact and are required ... Meckel-Gruber syndrome; Importance of Prenatal Diagnosis. ... http://en.wikipedia.org/wiki/Meckel_syndrome   en.wikipedia.org - summary WebMD Health A-Z - Find reliable health and medical information on ... Find a comprehensive index of trusted health and medical information. It is your ultimate guide to reliable ... Meckel Syndrome. Meckel-Gruber Syndrome. MED ... http://www.webmd.com/a-to-z-guides/health-topics/ma-me.htm   www.webmd.com - summary Index: ME: Merck Manual Professional Meckel's Diverticulum. Meckel-Gruber syndrome. Major Groups of Cystic Nephropathies ... Nephrotic Syndrome: Membranous Nephropathy ... http://www.merck.com/mmpe/index/ind_me.html   www.merck.com - summary Dandy-Walker syndrome - Wikipedia, the free encyclopedia Dandy-Walker syndrome is one such disease, part of an emerging class of diseases ... nephronophthisis, Alstrom syndrome, Meckel-Gruber syndrome and some forms ... http://en.wikipedia.org/wiki/Dandy-Walker_syndrome   en.wikipedia.org - summary MICROGYRIA - Pedbase.org Meckel-Gruber Syndrome. Bloch-Sulzberger Syndrome. Fukuyama's cerebromuscular dystrophy ... Zellweger's Syndrome. Neonatal adrenoleukodystrophy (NALD) 3. Toxic ... http://pedbase.org/m/microgyria/   pedbase.org - summary MKS1 - NextBio Meckel-Gruber syndrome. Bethanechol. Head of epididymis. Biedl-Bardet syndrome. Sulfadimethoxine. Tail of epididymis. Placental insufficiency ... http://www.nextbio.com/b/home/home.nb?q=MKS1   www.nextbio.com - summary Primary ciliary dyskinesia - Wikipedia, the free encyclopedia ... Alstrom syndrome, Meckel-Gruber syndrome and some ... Kartagener's syndrome and infertility: observation, diagnosis ... syndrome on ... http://en.wikipedia.org/wiki/Kartagener_syndrome   en.wikipedia.org - summary PMID 17185389 The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required ... 173-86 Meckel-Gruber syndrome (MKS) is an autosomal recessive lethal ... http://www.ncbi.nlm.nih.gov/pubmed/17185389   www.ncbi.nlm.nih.gov - summary Genomics|HuGENet|Literature|2007 Oct 18 The mission of the National Office of Public Health Genomics is to integrate advances in human genetics ... of the Meckel-Gruber syndrome. Auber B, et ... http://www.cdc.gov/genomics/hugenet/literature/2007/Hoct18.htm   www.cdc.gov - summary Marden-Walker syndrome - Wikipedia, the free encyclopedia Marden-Walker syndrome (MWS) "is comprised of blepharophimosis, microcephaly, ... nephronophthisis, Alstrom syndrome, Meckel-Gruber syndrome and some forms ... http://en.wikipedia.org/wiki/Marden-Walker_syndrome   en.wikipedia.org - summary ENCEPHALOCELE - Pedbase.org A neural tube defect affecting the skull resulting in the herniation of the ... Dandy-Walker Syndrome. Klippel-Feil Syndrome. Meckel-Gruber Syndrome ... http://www.pedbase.org/e/encephalocele   www.pedbase.org - summary Aberrant splicing is a common mutational mechanism in MKS1, a key ... ... is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome. ... Meckel-Gruber syndrome (MKS) is an autosomal recessive, usually lethal ... http://www.ncbi.nlm.nih.gov/pubmed/17437276?ordinalpos=6&ito...   www.ncbi.nlm.nih.gov - summary Renal Cystic Disease in Malformation Syndromes: Cystic Kidney Disease ... ... include oral-facial-digital syndrome, von Hippel-Lindau disease, tuberous ... Gruber, Laurence-Moon, Ehlers-Danlos, Ellis-van Creveld, Goldston, and Melnick ... http://www.merck.com/mmpe/print/sec17/ch232/ch232g.html   www.merck.com - summary HOLOPROSENCEPHALY - Pedbase.org An anterior midline defect resulting in a series of induction malformations ... Meckel-Gruber Syndrome. 2. Maternal. diabetes mellitus (0.5-1.0% of fetuses affected) ... http://pedbase.org/h/holoprosencephaly/   pedbase.org - summary Alström syndrome - Wikipedia, the free encyclopedia ... and liver disease, nephronophthisis, Meckel-Gruber syndrome and some forms of ... Alström syndrome in the Swedish Rare Disease Database ... http://en.wikipedia.org/wiki/Alstrom_syndrome   en.wikipedia.org - summary Joubert Syndrome -- GeneReviews -- NCBI Bookshelf ... with Meckel-Gruber syndrome whose families ... Meckel-Gruber syndrome. ... The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required ... http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=joubert   www.ncbi.nlm.nih.gov - summary 16415887 ... protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat. 191-6 Meckel-Gruber syndrome is a severe autosomal, recessively inherited ... http://www.ncbi.nlm.nih.gov/pubmed/16415887   www.ncbi.nlm.nih.gov - summary Joubert syndrome - Wikipedia, the free encyclopedia Joubert syndrome is one such disease, part of an emerging class of diseases ... nephronophthisis, Alstrom syndrome, Meckel-Gruber syndrome and some forms ... http://en.wikipedia.org/wiki/Joubert_syndrome   en.wikipedia.org - summary NEURONAL MIGRATION DISORDERS - Pedbase.org Meckel-Gruber Syndrome. Miller-Dieker Syndrome. Neonatal Adrenoleukodystrophy. Walker-Warburg Syndrome. Zellweger's Syndrome. CLINICAL FEATURES: 1. Neurological ... http://pedbase.org/n/neuronal-migration-disorders/   pedbase.org - summary Genomics|Update|2006 August 31 ... Bardet-Biedl, Alstrom and Meckel-Gruber syndromes can significantly advance the ... not have ever heard of Marfan syndrome, Ehlers-Danlos or Loeys-Dietz syndrome. ... http://www.cdc.gov/genomics/update/yr2006/aug31.htm   www.cdc.gov - summary IGF1 - NextBio IGF1: The somatomedins, or insulin-like growth factors (IGFs), comprise a family ... induced iodonaphthylazide leptin receptor liver disease Meckel-Gruber syndrome ... http://www.nextbio.com/b/home/home.nb?q=IGF1&tab=news   www.nextbio.com - summary PMID 17377820 ... diagnostics of Meckel-Gruber syndrome highlights phenotypic differences ... 591-9 Meckel-Gruber syndrome (MKS) is a recessively inherited, lethal disorder ... http://www.ncbi.nlm.nih.gov/pubmed/17377820   www.ncbi.nlm.nih.gov - summary Orofaciodigital syndrome - Wikipedia, the free encyclopedia ... nephronophthisis, Alstrom syndrome, Meckel-Gruber syndrome and some forms ... OFD syndrome type Figuera at NIH's Office of Rare Diseases ... http://en.wikipedia.org/wiki/Orofaciodigital_syndrome   en.wikipedia.org - summary The ciliopathies: an emerging class of human genetic disorders. Cilia and flagella are ancient, evolutionarily conserved organelles that project ... Bardet-Biedl syndrome, Alstrom syndrome, and Meckel-Gruber syndrome. ... http://www.ncbi.nlm.nih.gov/pubmed/16722803   www.ncbi.nlm.nih.gov - summary Bardet-Biedl syndrome - Wikipedia, the free encyclopedia The Bardet-Biedl syndrome is a ciliopathic human genetic disorder that produces ... nephronophthisis, Alstrom syndrome, Meckel-Gruber syndrome and some forms of ... http://en.wikipedia.org/wiki/Bardet-Biedl_syndrome   en.wikipedia.org - summary Omphalocele and gastroschisis and associated malformations. ... syndrome, Meckel-Gruber syndrome, Oto-palato-digital type II syndrome, CHARGE ... into a recognizable malformation syndrome or pattern (44.2%). 2008 Wiley ... http://www.ncbi.nlm.nih.gov/pubmed/18386803?ordinalpos=2&ito...   www.ncbi.nlm.nih.gov - summary Ellis-van Creveld syndrome - Wikipedia, the free encyclopedia ... nephronophthisis, Alstrom syndrome, Meckel-Gruber syndrome and some forms ... dysplasia) · Polyostotic fibrous dysplasia (McCune-Albright syndrome) ... http://en.wikipedia.org/wiki/Ellis-van_Creveld_syndrome   en.wikipedia.org - summary Meckel Syndrome - Yahoo! Health ... is possible that the main title of the report Meckel Syndrome is not the name you expected. Please check the ... Gruber Syndrome. Meckel-Gruber Syndrome. MES ... http://health.yahoo.com/children-resources/meckel-syndrome/h...   health.yahoo.com - summary Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Mai 2006 ... ... vitiligo 328 0.62% brugada syndrome 322 0.61% lupus 254 0.48% drepanocytose 219 ... edema angioneurotico 81 0.15% syndrome de rett 78 0.15% hermafroditismo ... http://orphanet.orpha.net/stat/orphanet/search_200605.html   orphanet.orpha.net - summary Orphanet: Meckel, syndrome de Le portail des maladies rares et des médicaments orphelins ... Gruber, syndrome de. Meckel-Gruber, syndrome de. Résumé. Le syndrome de Meckel est une maladie ... http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=564   www.orpha.net - summary Senior-Løken syndrome - Wikipedia, the free encyclopedia ... nephronophthisis, Alstrom syndrome, Meckel-Gruber syndrome and some forms ... for nephronophthisis type 4 and Senior-Løken syndrome, to chromosome 1p36" ... http://en.wikipedia.org/wiki/Senior-L%C3%B8ken_syndrome   en.wikipedia.org - summary Site Map od Pedbase.org - The Pediatric Database Pedbase Site Map. Pediatric. Site Map. Resources. Contact. PEDBASE.org - The Pediatric Database. A. B. C. D. E. F. G. H. I. J. K. L. M. N. O. P. R. S. T. U. V. W. X ... http://pedbase.org/sitemap.html   pedbase.org - summary L1 Syndrome -- GeneReviews -- NCBI Bookshelf L1 syndrome is inherited in an X-linked manner. ... Hydrolethalus syndrome. Meckel-Gruber syndrome. Smith-Lemli-Opitz syndrome ... http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=l1cam   www.ncbi.nlm.nih.gov - summary Introduction: Cystic Kidney Disease: Merck Manual Professional ... part of a malformation syndrome, or acquired (single or ... Meckel-Gruber. Occipital encephalocele, polydactyly, craniofacial dysplasia. Melnick-Fraser ... http://www.merck.com/mmpe/print/sec17/ch232/ch232a.html   www.merck.com - summary Cilia proteins control cerebellar morphogenesis by promoting expansion ... Although human congenital cerebellar malformations are ... Joubert syndrome, Meckel-Gruber syndrome, Bardet-Biedl syndrome, and Orofaciodigital syndrome. ... http://www.ncbi.nlm.nih.gov/pubmed/17804638?ordinalpos=1&ito...   www.ncbi.nlm.nih.gov - summary Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Juin 2006 ... danlos 13 0.03% syndrome de gougerot sjogren 13 0.03% xantinuria 12 0.03 ... de leopard 4 0.01% sindrome de meckel gruber 4 0.01% sindrome de miller dieker 4 ... http://orphanet.orpha.net/stat/orphanet/search_200606.html   orphanet.orpha.net - summary Hypomorphic mutations in syndromic encephalocele genes are associated ... Meckel-Gruber syndrome (MKS) is a genetically heterogeneous, neonatally lethal ... syndrome (BBS) or may have a potential epistatic effect on mutations in known ... http://www.ncbi.nlm.nih.gov/pubmed/18327255?ordinalpos=2&ito...   www.ncbi.nlm.nih.gov - summary Search Results Disorders include oral-facial-digital syndrome, von Hippel ... Diffuse alveolar hemorrhage syndrome is persistent or recurrent pulmonary. ... http://www.merck.com/mrksearch/SearchServlet?filtN=professio...   www.merck.com - summary Orphanet: Meckel syndrome The portal for rare diseases and orphan drugs ... Meckel-Gruber syndrome. Summary. Meckel syndrome (MKS) is a monogenic disease characterized by a combination of ... http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=564.0   www.orpha.net - summary 249000 http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=249000   www.ncbi.nlm.nih.gov - summary Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Juillet ... de cohen 20 0.06% syndrome de marshall 20 0.06% trisomie 18 19 0.06 ... 3 0.01% mazabraud syndrome 3 0.01% meckel gruber 3 0.01% melorheostosis ... http://orphanet.orpha.net/stat/orphanet/search_200607.html   orphanet.orpha.net - summary Bardet-Biedl Syndrome -- GeneReviews -- NCBI Bookshelf Meckel-Gruber syndrome. ... in several cases of Meckel-Gruber syndrome [Karmous-Benailly et al 2005]. Meckel-Gruber syndrome is usually lethal and typically ... http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=bbs   www.ncbi.nlm.nih.gov - summary Oral-Facial-Digital Syndrome Type I -- GeneReviews -- NCBI Bookshelf ... may in fact have other diagnoses, such as another OFD or Meckel-Gruber syndrome. ... Meckel-Gruber syndrome. Meckel-Gruber syndrome is characterized by CNS ... http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=ofd1   www.ncbi.nlm.nih.gov - summary Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Novembre ... ... 0.20% meningioma 116 0.20% brugada syndrome 116 0.20% xeroderma pigmentosum 115 ... 32 0.05% syndrome de lyell 31 0.05% artrite psoriatica 31 0.05% atresia de ... http://orphanet.orpha.net/stat/orphanet/search_200611.html   orphanet.orpha.net - summary L1 Syndrome L1 syndrome is characterized by hydrocephalus, mental retardation, ... Meckel-Gruber syndrome. ? Smith-Lemli-Opitz syndrome. ? Mucopolysaccharidosis type I ... http://www.ncbi.nlm.nih.gov/bookshelf/picrender.fcgi?book=ge...   www.ncbi.nlm.nih.gov - summary Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Decembre ... ... sindrome de lowe 6 0.01% sindrome de meckel 6 0.01% sindrome de peters 6 0.01 ... 0.01% syndrome de marfan.fr 5 0.01% syndrome de meckel 5 0.01% syndrome de ... http://orphanet.orpha.net/stat/orphanet/search_200612.html   orphanet.orpha.net - summary show more 1  2