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
Home This foundation's goal is to help fund research, education and study regarding meckelgruber syndrome. http://www.meckel-gruber.org/
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 syndromemeckelgruber 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
Extractions: (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 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
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
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
Extractions: 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.
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
Extractions: Pediatric Database (PEDBASE) Discipline: GEN Last Updated: 12/04/97 An autosomal recessive disorder of unknown etiology characterized by an occipital encephalocele, cystic dysplastic kidneys, and polydactyly. risk factors: M = F prevalent in Finland (1:9000 births), and among the Tatars and the Gujarati Indians 2. Facial Manifestations
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
Extractions: (advertisement) Synonyms, Key Words, and Related Terms: MKS, dysencephalia splanchnocystica, Gruber syndrome, Meckel syndrome type 1, MKS1, MES 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:
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/
Extractions: 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. 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.
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/
Extractions: 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.
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
Extractions: 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.
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
Extractions: 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. :)
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
Extractions: 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
Extractions: 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
