1. MECKEL-GRUBER SYNDROME (DYSENCEPHALIA SPLANCHNOCYSTICA) Features Listed For meckelgruber syndrome (DYSENCEPHALIA SPLANCHNOCYSTICA) Abnormal liver (including function) Cardiac situs inversus/dextrocardia Cerebellar abnormalities (structural) Cerebral atrophy/myelin abnormality http://www.hgmp.mrc.ac.uk/dhmhd-bin/hum-look-up?1095

2. Home This foundation's goal is to help fund research, education and study regarding meckelgruber syndrome. http://www.meckel-gruber.org/

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3. EMedicine - Meckel-Gruber Syndrome : Article By Suzanne M Carter, MS meckel-gruber syndrome, an introduction, clinical, differentials, work up, treatment and follow up.Category Health Conditions and Diseases meckel-gruber syndrome......meckelgruber syndrome. Background meckel-gruber syndrome (MKS) (OMIM 24900)is a lethal, rare autosomal recessive condition mapped to chromosome 17. http://www.emedicine.com/ped/topic1390.htm

(advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Pediatrics Genetics And Metabolic Disease Meckel-Gruber Syndrome Last Updated: January 25, 2002 Rate this Article Email to a Colleague Synonyms and related keywords: MKS, dysencephalia splanchnocystica, Gruber syndrome, Meckel syndrome type 1, MKS1, MES AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Clinical Differentials ... Bibliography Author: Suzanne M Carter, MS , Senior Genetic Counselor, Associate, Department of Obstetrics and Gynecology, Division of Reproductive Genetics, Montefiore Medical Center, Albert Einstein College of Medicine Coauthor(s): Susan J Gross, MD, FRCS(C), FACOG, FACMG , Codirector, Division of Reproduction Genetics, Associate Professor, Department of Obstetrics and Gynecology, Albert Einstein College of Medicine Suzanne M Carter, MS, is a member of the following medical societies: American College of Medical Genetics Editor(s): Christian J Renner, MD

4. Meckel-Gruber Syndrome a CHORUS notecard document about meckelgruber syndrome meckel-gruber syndrome. encephalocele. multiple renal cysts http://chorus.rad.mcw.edu/doc/00465.html

CHORUS Collaborative Hypertext of Radiology Multisystem entities Feedback Search Meckel-Gruber syndrome encephalocele multiple renal cysts Charles E. Kahn, Jr., MD - 24 November 1995 Last updated 14 March 2001 Medical College of Wisconsin

5. Meckel-Gruber Syndrome A Brief Overview of 'meckelgruber syndrome' *** If you have problems printing this document, to download the printable TEXT document. meckel-gruber syndrome Defined http://mgs.smartperspective.com/mgs.htm

A Brief Overview of 'Meckel-Gruber Syndrome' If you have problems printing this document, CLICK HERE to download the printable TEXT document. Meckel-Gruber Syndrome: Defined Meckel Gruber Syndrome is characterized by congenital (present at birth) deformations of the brain, resulting in mental retardation, cystic growths of the kidneys, and malformations of the hands and feet. The children may also show fibrous growths in the ducts of the liver, bone deformities of the arms and legs, a sloping forehead, cleft palate, cardiac abnormalities, and incomplete development of external and/or internal genitalia. Symptoms vary among each case, however. These symptoms invariably lead to death primarily due to lung and kidney failure. While the exact CAUSE of MG-S is unknown, it was not until 1969 that this condition was found to have a genetic link. Only recently have scientists begun to find more genetic components associated with MG-S Frequency: Great Britain: 1 in 140,000 Ashkenazi Jews: 1 in 50,000 Finland: 1 in 8500 Massachusetts: 1 in 13,250

6. Meckel-Gruber Syndrome meckelgruber syndrome. DEFINITION An autosomal recessive disorder of unknown etiology characterized by an occipital http://www.icondata.com/health/pedbase/files/MECKEL-G.HTM

Pediatric Database (PEDBASE) Discipline: GEN Last Updated: 12/04/97 MECKEL-GRUBER SYNDROME DEFINITION: An autosomal recessive disorder of unknown etiology characterized by an occipital encephalocele, cystic dysplastic kidneys, and polydactyly. EPIDEMIOLOGY: incidence: over 200 cases reported age of onset: prenatally by ultrasound or at birth risk factors: familial - autosomal recessive chrom.#: 17q21-q24 gene: ? M = F prevalent in Finland (1:9000 births), and among the Tatars and the Gujarati Indians PATHOGENESIS: 1. Background also called Meckel Syndrome, Gruber Syndrome, Dysencephalia Splanchnocytica originally described by J.R. Meckel in 1822 and later by G.B. Gruber in 1934 who called the condition Dysencephalia Splanchnocytica 2. Pathogenesis unknown CLINICAL FEATURES: 1. Central Nervous System Manifestations occipital encephalocele anencephaly, microcephaly, or hydrocephaly +/- Arnold-Chiari Malformation cerebral and cerebellar hypoplasia absent olfactory lobes and tract, corpus callosum, and septum pallucidum 2. Facial Manifestations

7. 1Up Health > Health Links Directory > Conditions And Diseases: Genetic Disorders Conditions and Diseases Genetic Disorders meckelgruber syndrome . Uncover resources and links to Web sites related to Conditions and Diseases Genetic Disorders meckel-gruber syndrome . e-Medicine Genetics and Metabolic Disease MKS. meckel-gruber syndrome, an introduction, clinical, differentials, work up, http://www.1uphealth.com/links/genetic-disorders-meckel-gruber-syndrome.html

Home Contact Us Privacy Caring For Your Well Being Alternative Medicine Clinical Trials Health News Poisons ... Health Topics A-Z Search 1Up Health Health Directory Addictions Alternative Animal ... Weight Loss By Demography Child Health Teen Health Men's Health Women's Health ... Genetic Disorders : Meckel-Gruber Syndrome Description Sites e-Medicine: Genetics and Metabolic Disease: MKS Meckel-Gruber syndrome, an introduction, clinical, differentials, work up, treatment and follow up. Human Genome Mapping Project A list of features for meckel-gruber syndrome, also known as dysencephalia splanchocystica. The Meckel-Gruber Foundation This foundation's goal is to help fund research, education and study regarding Meckel-Gruber Syndrome. NORD - Meckel Syndrome A general discussion, alternate names along with further resources. TheFetus.net An in depth look at meckel gruber syndrome by Sandra R Silva, MD and Philippe Jeanty, MD, PhD. Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor Parts of the directory made available on 1UpHealth have been modified. External Web site links provided on this site are meant for convenience and for informational purposes only; they do not constitute an endorsement.

8. EMedicine - Meckel-Gruber Syndrome : Article Excerpt By: Suzanne M Carter, MS Excerpt from meckelgruber syndrome. Synonyms, Key Please click here toview the full topic text meckel-gruber syndrome. Background Meckel http://www.emedicine.com/ped/byname/meckel-gruber-syndrome.htm

(advertisement) Excerpt from Meckel-Gruber Syndrome Synonyms, Key Words, and Related Terms: MKS, dysencephalia splanchnocystica, Gruber syndrome, Meckel syndrome type 1, MKS1, MES Please click here to view the full topic text: Meckel-Gruber Syndrome Background: Meckel-Gruber syndrome (MKS) (OMIM 24900) is a lethal, rare autosomal recessive condition mapped to chromosome 17. The triad of occipital encephalocele, large polycystic kidneys, and postaxial polydactyly characterizes MKS. Associated abnormalities include oral clefting, genital anomalies, CNS malformations, and fibrosis of the liver. Pulmonary hypoplasia is the leading cause of death. With the advent of ultrasound, prenatal diagnosis is possible during the second trimester or late first trimester. Pathophysiology: It has been suggested that a failure of mesodermal induction causes MKS. The induction cascades of early morphogenesis involve numerous growth factors, homeo box genes, and paired domain genes. Frequency: Internationally: Worldwide, incidence of MKS varies from 1 in 13,250 to 1 in 140,000 live births. There is a predilection for the Finnish population, in whom the birth incidence is 1 in 9000. Mortality/Morbidity: Oligohydramnios resulting from dysplastic kidneys leads to fetal pulmonary hypoplasia. Since the prognosis is grim, with death in utero or shortly after birth, prenatal diagnosis has led to therapeutic abortion of many affected fetuses.

9. M - CHORUS Albright syndrome; McGregor's line; Meckel diverticulum; Meckel scan;meckelgruber syndrome; meconium aspiration syndrome; meconium ileus; http://chorus.rad.mcw.edu/to-go/M.html

M macrodystrophic lipomatosis Madelung deformity Mafucci syndrome Maisonneuve fracture ... Home

10. Google Directory - Health > Conditions And Diseases > Genetic Disorders > Meckel Search only in meckelgruber syndrome Search the Web The Meckel-Gruber Foundation - http//www.meckel-gruber.org/ This foundation's goal is to help fund research, education and study regarding meckel-gruber syndrome. http://directory.google.ch/Top/Health/Conditions_and_Diseases/Genetic_Disorders/

Directory Help Search only in Meckel-Gruber Syndrome Search the Web Meckel-Gruber Syndrome Health Conditions and Diseases Genetic Disorders Go to Directory Home Web Pages Viewing in Google PageRank order View in alphabetical order The Meckel-Gruber Foundation http://www.meckel-gruber.org/ This foundation's goal is to help fund research, education and study regarding Meckel-Gruber Syndrome. e-Medicine: Genetics and Metabolic Disease: MKS http://www.emedicine.com/ped/topic1390.htm Meckel-Gruber syndrome, an introduction, clinical, differentials, work up, treatment and follow up. Human Genome Mapping Project http://www.hgmp.mrc.ac.uk/dhmhd-bin/hum-look-up?1095 A list of features for meckel-gruber syndrome, also known as dysencephalia splanchocystica. NORD - Meckel Syndrome A general discussion, alternate names along with further resources. Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor Advertise with Us

11. Antenatal Ultrasound Diagnosis Of Meckel-Gruber Syndrome Antenatal Ultrasound Diagnosis of meckelgruber syndrome N Dahiya,Vijay S, S Prabhakar, S Subramaniam, Neha Dahiya Ind J Radiol http://www.ijri.org/archives/20011104/case.htm

Antenatal Ultrasound Diagnosis of Meckel-Gruber Syndrome N Dahiya, Vijay S, S Prabhakar, S Subramaniam, Neha Dahiya Ind J Radiol Imag 2001 11:4:199-201 Keywords: Beckwith-Wiedmann syndrome, adrenal gland, cysts Introduction Meckel-Gruber syndrome is a rare and lethal autosomal recessive disorder characterized by occipital encephalocele, postaxial polydactyly and bilateral dysplastic cystic kidneys. It can be associated with many other conditions. Antenatal ultrasound examination can establish the correct diagnosis by identifying at least two of the major features described. Material and Methods A twenty-five-year-old woman with 16 weeks amenorrhea was referred for a second trimester ultrasonogram to detect fetal anomalies. There was history of first-degree consanguinity. The patient had two previous second trimester abortions. Records were not available and the patient stated that both the abortions were due to “abnormal kidneys”. Ultrasonography was done using GE logiq 500 PRO equipment, with a 4MHz Curvilinear transducer. The scan revealed bilateral enlarged hyperechoic kidneys (Fig.1,2), occipital encephalocele (Fig.3), six digits in all four limbs (Fig.4) and bilateral clubfeet. Though there was no oligohydramnios the fetal urinary bladder was not visualised both in the initial scan and in all repeat scans done over a period of two days.

12. The Indian Journal Of Radiology And Imaging - Current Issue Antenatal Ultrasound Diagnosis of meckelgruber syndrome N Dahiya, Vijay S, SPrabhakar, S Subramaniam, Neha Dahiya Osteolipoma DS Shetty, BN Lakhkar, S http://www.ijri.org/archives/20011104/

November 2001 - Vol 11 : No 04 Table of Contents Editorial Editorial Bhavin Jankharia Pictorial Essay Mammographic Features of Breast Cancer MB Popli Radiation Radiation Doses to Patients from X-Ray Examinations Involving Fluroscopy G Ramakrishnan, V Padmanabhan Neuro Radiology Value of Dynamic MRI Imaging in Pituitary Adenomas IK Indrajit, N Chidambaranathan, K Sundar, I Ahmed Chest Radiology Thoracic Sarcoidosis: The Spectrum of Roetgenologic Appearances D Deepak, A Shah Case Report Antenatal Ultrasound Diagnosis of Meckel-Gruber Syndrome N Dahiya, Vijay S, S Prabhakar, S Subramaniam, Neha Dahiya Osteolipoma DS Shetty, BN Lakhkar, S Abubacker Images Whirlpool Sign-Midgut Volvulus (An US Diagnosis) S Magu, KN Rattan, N Sharma Radiological Quiz Musculoskeletal S Pungavkar, D Patkar, J Shah,SV Kothari Abdominal K Saggar, R Goyal, SC Goyal, K Goel

13. DIRECTORY.TERADEX.COM - Health/Fitness/Diseases/Genetic Disorders/Meckel-Gruber Genome Mapping Project A list of features for meckel-gruber syndrome, also known as dysencephalia splanchocystica. http://directory.teradex.com/Health_Fitness/Diseases/Genetic_Disorders/Meckel-Gr

preloadImages('as_free_x-mail_s','as_anonymous','as_ad-space'); Add your Web Site Add Search to your Site Search for: Search through: Entire site Meckel-Gruber Syndrome DIRECTORY Health/Fitness Diseases Genetic Disorders ... Human Genome Mapping Project - A list of features for meckel-gruber syndrome, also known as dysencephalia splanchocystica. NORD - Meckel Syndrome - A general discussion, alternate names along with further resources. The Meckel-Gruber Foundation e-Medicine: Genetics and Metabolic Disease: MKS - Meckel-Gruber syndrome, an introduction, clinical, differentials, work up, treatment and follow up. Submit Premium Listing! $10 for two years Sign Up User Name: Password: Edit in Real Time, Banner Placement Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor This site is presented in modified Open Directory form E-Mail: webmaster@teradex.com Aaex Corp.

14. The 'MECKEL-GRUBER SYNDROME FOUNDATION' The meckelgruber syndrome Foundation. IN THE BEGINNING .. There were many children who suffered due to the devastating disorder meckel-gruber syndrome. http://mgs.smartperspective.com/mgssf.htm

The Meckel-Gruber Syndrome Foundation 9/10/01 UPDATE: The DONATION PAGES are now working correctly. Thank you for your patience and understanding. IN THE BEGINNING..... There were many children... who suffered due to the devastating disorder: Meckel-Gruber Syndrome These parents suffered through a grueling, soul-ripping, devastating and heartbreaking descision-making process during pregnancy and had little comfort because very little is known, or been MADE known TO them, about this terrible disorder. This disorder is still prevalent today, and continues it's wave of devastation throughout families around the world. However 'little-known', it's consequences are still far reaching and deep-impacting. The Meckel-Gruber Foundation was created to help expand the knowledge or MG-S, provide research funding for MG-S, and down the line once it's firmly established: provide scholarships for medical students, fund support programs for families living with a surviving MG-S child as well as those who have suffered a loss or losses due to MG-S, and other MG-S related programs. HOPEFULLY, the foundation will bring this all-but-unknown disorder up to par (or at least closer than it is at present) with research being done on more well known disorders....such as Multiple Sclerosis or SIDS to name a couple. The MG-S Foundation is only in the beginning stages because we need funding to get it going. While it is

15. Meckel-Gruber Syndrome Information Informative Web Sites On meckelgruber syndrome. Here are just a few sitesI've found helpful for finding information about meckel-gruber syndrome. http://www.geocities.com/Heartland/Meadows/5132/mgs.html

Informative Web Sites On Meckel-Gruber Syndrome Here are just a few sites I've found helpful for finding information about Meckel-Gruber Syndrome. A bit of warning for other searches on the internet. I had the unfortunate experience of coming upon a site that had information on Meckel-Gruber Syndrome, BUT, it was a site with autopsy pictures (I don't have the site listed below). The site didn't just contain information on MGS, it contained many other autopsies on infants with complications. Please be careful when searching the internet. :) NORD - Meckel Syndrome NORD - Order Information on Meckel Syndrome (for a fee) Features Listed For MECKEL-GRUBER SYNDROME (DYSENCEPHALIA SPLANCHNOCYSTICA) Clinical Synopsis from OMIM (general overview) OMIM Entry (full text information) type 1 OMIM Entry (full text information) type 2 eMedicine's explanation of Meckel Gruber Syndrome This site has autopsy information on it (about 6 pictures), nothing too graphic though. At the bottom of the site is some helpful information about the syndrome. Department of Pathology, Pediatric Syndromes.

16. Meckel-Gruber Syndrome Survey meckelgruber syndrome Survey, Thank you for visiting this site. You are aparent of a child that has died as a result of meckel-gruber syndrome. http://www.geocities.com/Heartland/Meadows/5132/Survey.html

Meckel-Gruber Syndrome Survey Thank you for visiting this site.  Since the loss of my first child to Meckel-Gruber Syndrome, I have made many friends that have endured a loss of a child or known someone that has.  For those of you that have lost due to this syndrome I just want us to get to know each other.  My hope for this form is to compile information from parents and/or relatives about your individual story and possibly create a memorial for our precious babies.  By no means do I intend on singling out our children, I just hope to illustrate the defintate need for more research on this syndrome. The reason you're visiting this site: You are a parent of a child that has died as a result of Meckel-Gruber Syndrome. You know someone that has been affected by Meckel-Gruber Syndrome. You're interested in this syndrome. Other reason, please explain... Please share the following information: *** Date of Birth Date of Death Name(s) of your angel(s) Your story... Parent(s) name(s) Email Address I have no intentions of publishing any of this information without your consent and written email notice, please feel comfortable sharing this information with me. Number of healthy births: one two three four or more zero Thank you so much for sharing this information.  I realize how difficult it can be and I hope you all the best.  Please feel free to contact me via

17. Meckel-Gruber Syndrome From Pediatrics / Genetics And Metabolic Disease eMedicine Journal Pediatrics Genetics And Metabolic Disease MeckelGruberSyndrome Synonyms, Key Words, and Related Terms MKS, dysencephalia http://author.emedicine.com/ped/topic1390.htm

eMedicine Journal Pediatrics Genetics And Metabolic Disease Meckel-Gruber Syndrome Synonyms, Key Words, and Related Terms: MKS, dysencephalia splanchnocystica, Gruber syndrome, Meckel syndrome type 1, MKS1, MES Author Information Introduction Clinical Differentials ... Bibliography AUTHOR INFORMATION Section 1 of 11 Authored by Suzanne M Carter, MS , Senior Genetic Counselor, Associate, Department of Obstetrics and Gynecology, Division of Reproductive Genetics, Montefiore Medical Center, Albert Einstein College of Medicine Coauthored by Susan J Gross, MD, FRCS(C), FACOG, FACMG , Codirector, Division of Reproduction Genetics, Associate Professor, Department of Obstetrics and Gynecology, Albert Einstein College of Medicine Suzanne M Carter, MS, is a member of the following medical societies: American College of Medical Genetics Edited by Christian J Renner, MD , Consulting Staff, University Hospital for Children and Adolescents, Erlangen, Germany; Robert Konop, PharmD , Clinical Assistant Professor, Department of Pharmacy, Section of Clinical Pharmacology, University of Minnesota; Margaret McGovern, MD, PhD

18. Table Of Contents: Pediatrics Storage Disorders LongChain Acyl CoA Dehydrogenase Deficiency MELAS Syndrome MapleSyrup Urine Disease Marfan Syndrome meckel-gruber syndrome Medium-Chain Acyl http://author.emedicine.com/ped/GENETICS_AND_METABOLIC_DISEASE.htm

Table of Contents: Pediatrics GENETICS AND METABOLIC DISEASE Achondrogenesis Achondroplasia Aicardi Syndrome Alkaptonuria ... von Hippel-Lindau Disease

19. NEURONAL MIGRATION DISORDERS 2. Syndromes. meckelgruber syndrome; Miller-Dieker Syndrome; Neonatal Adrenoleukodystrophy;Walker-Warburg Syndrome; Zellweger's Syndrome. CLINICAL FEATURES http://www.icondata.com/health/pedbase/files/NEURONA1.HTM

Pediatric Database (PEDBASE) Discipline: CNS Last Updated: 5/22/94 NEURONAL MIGRATION DISORDERS DEFINITION: A group of disorders characterized by the abnormal migration of neurons during embryogenesis resulting in structurally abnormal cerebral hemispheres. EPIDEMIOLOGY: incidence: ? age of onset: infancy to childhood risk factors: familial - autosomal recessive and dominant, x-linked acquired - due to an in utero insult to the developing brain, i.e., CMV, intraventricular hemorrhage, hypoxic ischemic encephalopathy, PVL PATHOGENESIS: 1. Background the Neuronal Migration Disorders represent a group of disorders where metabolic, chromosomal, hypoxic-ischemic, and/or toxic environmental factors result in a process where there is a general or topical loss of control over neuronal migration after closing of the neural tube and formation of the telencephalic vesicles clinical variability is due to the various etiologies, sites affected, and gestational age at the time of the insult 2. Disorders Schizencephaly Porencephaly Lissencephaly (Agyria) Macrogyria (Pachygyria) Microgyria (Micropolygyria) Neuronal Heterotopias Agenesis of the Corpus Callosum Agenesis of the Cranial Nerves 3. Associated Anomalies

20. Meckel (Gruber) Syndrome Meckel (Gruber) Syndrome (Dysencephalia Splanchnocystica). meckelgruber syndrome;MECKEL SYNDROME, TYPE 1; MKS1; OBGYN.net - Ultrasound; meckel-gruber syndrome. http://www.bdid.com/meckel.htm

HOME Meckel (Gruber) Syndrome (Dysencephalia Splanchnocystica) Meckel Syndrome Meckel-Gruber syndrome Meckel-Gruber Syndrome Features Listed For MECKEL-GRUBER SYNDROME (DYSENCEPHALIA SPLANCHNOCYSTICA) ... HOME

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