41. ICD-10: Block Q80-Q89 Excludes, meckelgruber syndrome ( Q61.9 ). Q85.9, Phakomatosis, unspecified Q87.4, Marfan s syndrome. Q87.5, Other congenital malformation syndromes http://www3.who.int/icd/vol1htm2003/gq80.htm

Chapter XVII Congenital malformations, deformations and chromosomal abnormalities Other congenital malformations Congenital ichthyosis Excludes: Refsum's disease Ichthyosis vulgaris X-linked ichthyosis Lamellar ichthyosis Collodion baby Congenital bullous ichthyosiform erythroderma Harlequin fetus Other congenital ichthyosis Congenital ichthyosis, unspecified Epidermolysis bullosa Epidermolysis bullosa simplex Excludes: Cockayne's syndrome Epidermolysis bullosa letalis Herlitz' syndrome Epidermolysis bullosa dystrophica Other epidermolysis bullosa Epidermolysis bullosa, unspecified Other congenital malformations of skin Excludes: acrodermatitis enteropathica congenital erythropoietic porphyria pilonidal cyst or sinus Sturge-Weber(-Dimitri) syndrome Hereditary lymphoedema Xeroderma pigmentosum Mastocytosis Urticaria pigmentosa Excludes: malignant mastocytosis Incontinentia pigmenti Ectodermal dysplasia (anhidrotic) Excludes: Ellis-van Creveld syndrome Congenital non-neoplastic naevus Birthmark NOS Naevus: Excludes: lentigo naevus: Other specified congenital malformations of skin Abnormal palmar creases Accessory skin tags Benign familial pemphigus [Hailey-Hailey] Cutis laxa (hyperelastica) Dermatoglyphic anomalies Inherited keratosis palmaris et plantaris Keratosis follicularis [Darier-White] Excludes: Ehlers-Danlos syndrome Congenital malformation of skin, unspecified

42. Meckel's Syndrome (www.whonamedit.com) Also known as GruberMeckel syndrome,meckel-gruber syndrome,Gruber’s syndrome,vonHippel-Lindau syndrome,Simopoulos’ syndrome. http://www.whonamedit.com/synd.cfm/2055.html

Home List categories Eponyms A-Z Biographies by country ... Contact Whonamedit.com does not give medical advice. This survey of medical eponyms and the persons behind them is meant as a general interest site only. No information found here must under any circumstances be used for medical purposes, diagnostically, therapeutically or otherwise. If you, or anybody close to you, is affected, or believe to be affected, by any condition mentioned here: see a doctor. A recommendation: Hypography is an open community about science and all things related Meckel's syndrome Also known as: Gruber-Meckel syndrome Meckel-Gruber syndrome Gruber’s syndrome von Hippel-Lindau syndrome Simopoulos’ syndrome Synonyms: Dysencephalia splanchnocystica, splanchnocystic dyscephalia syndrome. Associated persons: Georg Benno Gruber Eugen von Hippel Arvid Vilhelm Lindau Johann Friedrich Meckel, the Younger ... Artemis P. Simopoulos Description: A lethal malformation complex characterised by occipital encephalocele, polycystic kidneys, polydactyly, microcephaly, microphthalmia, clefted palate, cataracts, congenital heart defect, genital anomalies, abnormal facies, and polycystic degeneration of the kidneys, liver, and pancreas. Polydactyly, the most common skeletal feature, involves all four limbs and presents hexadactyly, heptodactyly, or even a greater number of digits. Anencephaly and/or agenesis or hypoplasia of the cerebellum may occur. Death occurs within days or weeks. Aetiology unknown. Prevalent in females; present from birth. Inheritance is autosomal recessive, parental consanguinity occurring in some cases.

43. Glossary In Congenital Malformations NeuroLearn NeuroHelp meckelgruber syndrome (Meckel syndrome) Autosomal recessive and is lethal . Definition of meckel-gruber syndrome cystic kidney dysplasia plus at http://moon.ouhsc.edu/kfung/JTY1/NeuroHelp/ZNG0BS01-M.htm

Glossary in Congenital Malformations NeuroLearn NeuroHelp Malformations General ... Z General #Malformation: a morphological defect, including absence, of an organ, or larger region of the body resulting from an intrinsically abnormal developmental process. #Marcus-Gunn phenomenon (jaw-winking) this is a congenital phenomenon that is characterized by elevating or drooping eyelids associated with jaw movement, smilling, swallowing, or speaking; can be acquired or congenital. It is thought to be due to misconnection between the third and fifth, and other cranial nerves. See also anormalous axonal connection (guidance) syndromes, #Macrocephaly (megalocephaly): excessive occipitofrontal circumference without regard to cause or brain size. #Membranis reuniens dorsalis of von Recklinghausen: During closure of the vertebral column, the dorsal part of the spinal cord is first composed of a mass of connective tissue and cartilage. The two lateral processes grow medially and eventually fuse. The membranis renuiens dorsalis of von Recklinghausen is the deepest part of this tissue mass that separates the spinal cord from the overlying connective tissue and epithelium. #Meningocele: Herniation of the meninges through a defect in the cranium or vertebral column.

44. IACP-Pathology Quiz C. meckelgruber syndrome. D. Aicardi syndrome. E. Cowden syndrome. 11. Which ofthe following syndromes are not associated with increased risk for http://moon.ouhsc.edu/kfung/IACP-OLP/APAQ-Text/N1-TU-01.htm

Pathology Quiz On Pediatric Brain Tumors Kar-Ming Fung, M.D., Ph.D. Department of Pathology, University of Oklahoma Health Science Center Last update: April 30, 2005 Number of questions: 26 PDF File Each question has only one answer. Click on these thumbnails to go to the questions with these images: 1. Which of the following(s) is(are) true about childhood meningiomas? Answer They are more likely to behave more aggressive and recur more frequently. They are associated with neurofibromatosis 2 (NF2). They are more likely to be found at infratentorial, intraventricular, or intraparenchymal locations. Meningioms are common tumors in infants and children. A. 1, 2, and 3 are true. B. 1 and 3 are true. C. 2 and 4 are true. D. Only 4 is true. E. All of the above. . This primary cerebral tumor was removed from an 18 month-old boy. The most likely diagnosis is: Answer A. Ependymoma. B. Choroid plexus papilloma C. Pilomyxoma astrocytoma. D. Medulloepithelioma. E. Medulloblastoma.

45. Oral-Facial-Digital Syndrome, Type I meckelgruber syndrome. Etiology. genetic. Tissue of Origin. embryonic tissue.Main Pathologic Process. developmental. Treatment. genetic counseling http://www.dental.mu.edu/oralpath/lesions/oralfacialdigital/oralfacialdigital.ht

Oral-Facial-Digital Syndrome, Type I An X-linked dominant condition with lethality in males and is characterized by malformations of the face, oral cavity, and digits, and by a highly variable expressivity even within the same family. Clinical Features: prenatal, birth or later after polycystic kidney disease is identified occurs only in females oral anomalies: lobed tongue, hamartomas or lipomas of the tongue, cleft of the hard or soft palate, accessory gingival ferrule, hypodontia and other dental abnormalities facial anomalies: (ocular hypertelorism or telecanthus, hypoplasia of the alae nasi, median cleft or pseudocleft upper lip, and micrognathia digital anomalies: brachydactyly, syndactyly of varying degrees, and clinodactyly of the fifth finger; duplicated hallux [great toe]; preaxial or postaxial polydactyly of the hands central nervous system and urinary system are affected possible mild mental retardation Differential Diagnosis: oral-facial-digital syndrome type I oral-facial-digital syndrome types II, III, IV, V, VI, IX

46. Meckel Syndrome Meckel syndrome is a rare inherited disorder characterized by DysencephaliaSplanchnocystica; Gruber Syndrome; meckelgruber syndrome; MES; MKS http://www.bchealthguide.org/kbase/nord/nord661.htm

var hwPrint=1;var hwDocHWID="nord661";var hwDocTitle="Meckel Syndrome";var hwRank="1";var hwSectionHWID="nord661-Header";var hwSource="en-caQ2_05";var hwDocType="Nord"; National Organization for Rare Disorders, Inc. Meckel Syndrome Important It is possible that the main title of the report Meckel Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms Dysencephalia Splanchnocystica Gruber Syndrome Meckel-Gruber Syndrome MES MKS Disorder Subdivisions Meckel Syndrome Type 1 Meckel Syndrome Type 2 Meckel Syndrome Type 3 General Discussion Meckel syndrome is a rare inherited disorder characterized by abnormalities affecting several organ systems of the body (multisystem). Three classic symptoms are normally associated with Meckel syndrome: protrusion of a portion of the brain and its surrounding membranes (meninges) through a defect in the back or front of the skull (occipital encephalocele), multiple cysts on the kidneys (polycystic kidneys), and extra fingers and/or toes (polydactyly). Affected children may also have abnormalities affecting the head and face (craniofacial area), liver, lungs, and genitourinary tract. Meckel syndrome is inherited as an autosomal recessive trait. Resources Genetic Alliance 4301 Connecticut Avenue NW Suite 404 Washington, DC 20008-2304

47. Meckel Syndrome Dysencephalia Splanchnocystica; Gruber Syndrome; meckelgruber syndrome; MES;MKS. Disorder Subdivisions. Meckel Syndrome Type 1; Meckel Syndrome Type 2 http://my.webmd.com/hw/raising_a_family/nord661.asp

var guid_source = ""; var guid_source_id = ""; //unused var encodedurl = ""; WebMD Today Home WebMD News Center XML News via RSS Member Services WebMD University My WebMD Find a Physician Medical Info Check Symptoms Medical Library Health Tools Clinical Trials ... Women, Men, Lifestyle Who We Are About WebMD Site Map Health Topics Symptoms ... For a Complete Report Meckel Syndrome Important It is possible that the main title of the report Meckel Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms Dysencephalia Splanchnocystica Gruber Syndrome Meckel-Gruber Syndrome MES MKS Disorder Subdivisions Meckel Syndrome Type 1 Meckel Syndrome Type 2 Meckel Syndrome Type 3 General Discussion Meckel syndrome is a rare inherited disorder characterized by abnormalities affecting several organ systems of the body (multisystem). Three classic symptoms are normally associated with Meckel syndrome: protrusion of a portion of the brain and its surrounding membranes (meninges) through a defect in the back or front of the skull (occipital encephalocele), multiple cysts on the kidneys (polycystic kidneys), and extra fingers and/or toes (polydactyly). Affected children may also have abnormalities affecting the head and face (craniofacial area), liver, lungs, and genitourinary tract. Meckel syndrome is inherited as an autosomal recessive trait. Resources Genetic Alliance 4301 Connecticut Avenue NW Suite 404 Washington, DC 20008-2304

48. Elsevier.com - Smith S Recognizable Patterns Of Human Malformation SmithLemli-Opitz Syndrome Kabuki Syndrome Williams Syndrome Noonan Syndrome Syndrome Restrictive Dermopathy meckel-gruber syndrome Pallister-Hall http://www.elsevier.com/wps/product/cws_home/705571

Home Site map Regional Sites Advanced Product Search ... Smith's Recognizable Patterns of Human Malformation Book information Product description Audience Author information and services Ordering information Bibliographic and ordering information Book related information Submit your book proposal Other books in same subject area About Elsevier Select your view SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION To order this title, and for more information, go to http://www.elsevierhealth.com/title.cfm?ISBN=0721606156 Sixth Edition By Kenneth Jones , MD, Professor of Pediatrics; Chief, Division of Dysmorphology and Teratology, University of California, San Diego, School of Medicine, La Jolla, CA Description The completely revised and updated New Edition of this definitive text?now in full color! Long known as the source to consult for guidance on diagnosis, prognosis, plan management, and genetic counseling, this easy-to-use reference focuses on the patterns of human defects caused by inborn errors in morphogenesis as opposed to defects caused by mechanical problems. It provides a wealth of information on normal and abnormal morphogenesis * minor anomalies and their relevance * clinical approaches to specific diagnoses * and normal standards of measurement for the entire spectrum of disorders. Each chapter includes a description of the specific abnormality?including occasional associated abnormalities?natural history, etiology, and references. On opposing pages are several descriptive photographs and line drawings of either an individual with the abnormality or specific features of the abnormality.

49. %249000 MECKEL SYNDROME, TYPE 1; MKS1 DYSENCEPHALIA SPLANCHNOCYSTICA GRUBER SYNDROME meckelgruber syndrome The meckel-gruber syndrome was the most frequently identified specific syndrome. http://srs.sanger.ac.uk/srsbin/cgi-bin/wgetz?[omim-ID:249000] -e

50. %603194 MECKEL SYNDROME, TYPE 2; MKS2 AhdabBarmada, M.; Claasen, D. A distinctive triad malformations of the centralnervous system in the meckel-gruber syndrome. J. Neuropath. Exp. Neurol. http://srs.sanger.ac.uk/srsbin/cgi-bin/wgetz?[omim-ID:603194] -e

51. British Library Direct: Order Details Order from the British Library Distribution of myofibroblastic cells in theliver and kidney of meckelgruber syndrome Pathology International. http://direct.bl.uk/research/50/57/RN141939737.html

This is an article from British Library Direct, a new service that allows you to search across 20,000 journals for free and order full text using your credit card. Buy this article Search British Library Direct Return to Google Article details Article title Distribution of myofibroblastic cells in the liver and kidney of Meckel-Gruber syndrome Author Kuroda, N. Ishiura, Y. Kawashima, M. Miyazaki, E. Hayashi, Y. Enzan, H. Journal title PATHOLOGY INTERNATIONAL Bibliographic details 2004, VOL 54; NUMBER 1, pages 57-62 Publisher Blackwell Publishing Ltd Country of publication Australia ISBN ISSN Language English Pricing To buy the full text of this article you pay: service charge Abstract: By using this site you agree to our terms and conditions Privacy policy We welcome your comments

52. Meckel-Gruber Syndrome. Importance Of Prenatal Diagnosis -- Nyberg Et Al. 9 (12) meckelgruber syndrome. Importance of prenatal diagnosis Recurrence ofmeckel-gruber syndrome may be evaluated as soon as 14 weeks, but it may not be http://www.jultrasoundmed.org/cgi/content/abstract/9/12/691

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article Order Full text via Infotrieve Alert me when this article is cited Alert me if a correction is posted Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager PubMed PubMed Citation Articles by Nyberg, D. A. Articles by Hickok, D. JOURNAL ARTICLE Meckel-Gruber syndrome. Importance of prenatal diagnosis D. A. Nyberg, D. Hallesy, B. S. Mahony, J. H. Hirsch, D. A. Luthy and D. Hickok Department of Ultrasound, Swedish Hospital Medical Center, Seattle, Washington. Prenatal sonographic findings are reported in six fetuses with the Meckel-Gruber syndrome to illustrate the variety of sonographic findings associated with this disorder and to emphasize the importance of prenatal sonography in helping to establish the correct diagnosis. All six fetuses demonstrated evidence of renal cystic dysplasia. In five cases the kidneys were large and echogenic, demonstrating small discrete cysts in the range

53. Meckel Syndrome It is possible that the main title of the report Meckel Syndrome is not the name Dysencephalia Splanchnocystica; Gruber Syndrome; meckelgruber syndrome http://www.meritcare.com/hwdb/showTopic.asp?pd_hwid=nord661

54. NeLH - Clinical Genetics defects may also be part of a congenital malformation syndrome, such asmeckelgruber syndrome. meckel-gruber syndrome is characterised by a triad of http://libraries.nelh.nhs.uk/genepool/viewResource.asp?uri=http://libraries.nelh

55. Definitions Of Genetic Disorders-M. Meckel Syndrome meckel.htm meckelgruber syndrome meckel.htm Median Cleft FaceSyndrome fnd.htm Mediterranean Anemia thalass.htm http://www.icomm.ca/geneinfo/def-m.htm

56. Portal Toolkit Invalid Site URL conditions such as Ellis van Creveld syndrome, meckelgruber syndrome, 12 weeks 9 to confirm the diagnosis of meckel-gruber syndrome immediately http://ppv.ovid.com/pt/re/ajog/fulltext.00000447-199408000-00040.htm

Sorry, the URL specified, http://ppv.ovid.com:80/pt/re/ajog/fulltext.00000447-199408000-00040.htm , is invalid. To go to site for "OvidPPV" please click here http://ppv.ovid.com To go to site for "American Journal of Obstetrics & Gynecology" please click here http://www.lwwonline.com To go to the LWW Online site, please click here http://www.lwwonline.com Thank you

57. Portal Toolkit Invalid Site URL A diagnosis of meckelgruber syndrome was made at 11 weeks menstrual age byvisualizing postaxial polydactyly and an occipital encephalocele. http://ppv.ovid.com/pt/re/ajog/abstract.00000447-199305000-00037.htm

Sorry, the URL specified, http://ppv.ovid.com:80/pt/re/ajog/abstract.00000447-199305000-00037.htm , is invalid. To go to site for "OvidPPV" please click here http://ppv.ovid.com To go to site for "American Journal of Obstetrics & Gynecology" please click here http://www.lwwonline.com To go to the LWW Online site, please click here http://www.lwwonline.com Thank you

58. MAPPING SAUDI ARABIA FOR Down syndrome. 1. Polydactyly. 1. Encephalocele. meckelgruber syndrome. 2.Imperforate anus with hypospadias. 1. Right inguinal hernia with hypoplastic http://www.kfshrc.edu.sa/annals/211_212/00-215.htm

59. HUM-MOLGEN DIAGnostics/Clinical Research 21/2/96 Meckel-Gruber/ PT The autopsy findings suggest the possibility of meckelgruber syndrome, hover itis not a clinical case of Meckel. I am desperatly looking for more research http://hum-molgen.org/clinical/21296-5.html

HUM-MOLGEN DIAGnostics/Clinical Research Meckel-Gruber/ PT. REQ. I have recently had 2 pregnancies result in very unhealthy babies which did not survive. The autopsy findings suggest the possibility of Meckel-Gruber syndrome, hover it is not a clinical case of Meckel. I am desperatly looking for more research on Meckel/ more opions on wether this diagnose could be more accurate. Please help me or guide me in another direction. I am desperate to know as much as I possibly can. Gratefully, Apparent patient location: USA *** PLEASE, REPLY TO HUMAN MOLECULAR GENETICS DIRECTLY ***( gambacorti@icil64.cilea.it

60. MUMS List Of Disorders - M MELAS Mitochondrial Encephalopathy Lactic Acidosis Syndrome (7) *; Macrocephaly (large Measles Vaccine (bad reaction) (9) *; meckelgruber syndrome (2) http://www.netnet.net/mums/mum_m.htm

Return to MUMS Home Page MUMS: List of Disorders M Number in parentheses indicates number of matches. indicates there is a support group which covers that diagnosis. MELAS Mitochondrial Encephalopathy Lactic Acidosis Syndrome (7) * Macrocephaly (large head) (29) http://www.macrocephaly-cmtc.com/ Macrodactyly (Large toes or fingers) (2) Macroglossia (6) Macrosomia (abnormally large body) (2) Macular Degeneration (4) * Macular Degeneration (Infantile) * Male Pseudohermaphroditism (2) * Malignant Atrophic Papulosis(Degos disease) www.degosdisease.com Malignant Hyperthermia (12) * Malrotation of the Intestines (31) Mandibuloacral Dysplasia(Craniomandibular Dermatodysostis) (3) Manic Depression, Bipolar (64) * Manic Depressive Schizophrenia (19) * Mannosidosis (Glycogen Storage) (4)** Maple Syrup Urine Disease (7) * Marcus Gunn Phenomenon (Jaw Winking) (3) Marden-Walker Syndrome (7) Marfan Syndrome (12) * Marinesco-Sjogren Syndrome (1) www.marinesco-sjogren.org Marshall-Smith Syndrome (1) Mast Cell Disease (Urticaria Pigmentosa) (9) Mastocytosis (Urticaria Pigmentosa) (9) www.mastokids.org

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