1. MECKEL-GRUBER SYNDROME (DYSENCEPHALIA SPLANCHNOCYSTICA) A list of features for meckel-gruber syndrome, also known as dysencephalia splanchocystica.Category Health Conditions and Diseases Meckel-Gruber Syndrome......Features Listed For MECKELGRUBER SYNDROME (dysencephalia splanchnocystica).McKusick 249000. Abnormal liver (including function); Anal http://www.hgmp.mrc.ac.uk/dhmhd-bin/hum-look-up?1095

2. Case Of The Month September 1998 zur frage "gekoppelter" Miszbildungen (Akrocephalosyndactylie und dysencephalia splanchnocystica) Beitr. Path. Anat. http://www.obgyn.net/us/cotm/9809/cotm_9809.htm

OBGYN.net Ultrasound: Case of the Month Sept. 1998 The Meckel Syndrome by Hans van der Slikke, MD 1. In 1992 a 27 year old woman was seen in our obstetric ultrasound department, because of routine sonography for her first pregnancy of 16 weeks and 4 days. Her general history were negative, as was her family history. The ultrasound showed dilated ventricles and an occipital encephalocele. Both kidneys showed multiple cysts (picture 1.) Diagnosis: Meckel-Gruber syndrome. A few days later her pregnancy was terminated with a sulproston infusion. Pathology confirmed the diagnosis. Next to the already described malformations the right foot counted 6 toes, while the left hand showed an extra finger. Because the Meckel-Gruber syndrome is a recessive disease, she was told that she had a 25% chance of having an affected fetus in her next pregnancy. 2. Five months later she reported a new pregnancy. At 9 weeks she seemed to have a normal ultrasound, but at 12 weeks a cranial cyst was seen (picture 2.). Pathology: because of the curettage it was difficult to recognize fetal parts. However two hands with 6 fingers each were found. This seems a confirmation of the diagnosis M-G syndrome.

3. Meckel's Syndrome (www.whonamedit.com) syndrome Gruber’s syndrome von HippelLindau syndrome Simopoulos’ syndrome Synonymsdysencephalia splanchnocystica, splanchnocystic dyscephalia syndrome. http://www.whonamedit.com/synd.cfm/2055.html

Home List categories Eponyms A-Z Biographies by country ... Contact 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. After Meckel, the syndrome was described by Willem Vrolik (1801-1863) in 1854, by August Förster (1822-1865) in 1862, and by Johann Ludwig Casper in 1864. However, the identity of this syndrome was not established until 1969, when John Marius Opitz (1935–) and J. J. Howe proposed the name Meckel syndrome. They delineated its clinical and pathological features. S. Mecke and E. Passarge confirmed the autosomal recessive hypothesis by a a priori method. Nowadays it is clearly an autosomal recessive disorder.

4. Welcome To MECKEL-GRUBER.org . In Memory Of Max McShane. Passed Away May 27th, 1 (aka Gruber's syndrome and dysencephalia splanchnocystica.). Thank you for your interest and for visiting this site. http://mgs.smartperspective.com/rmid.htm

IN MEMORIUM: MAX McSHANE May 27, 1998 - May 27, 1998 He is an Angel now, with God My nephew Max was born at 4:13am on May 27th 1998. He lived for 45 minutes, then God took him home. He had a VERY rare syndrome: MECKEL-GRUBER Syndrome (aka: Gruber's syndrome and dysencephalia splanchnocystica.) Thank you for your interest and for visiting this site. I hope that it helps someone, somewhere, in some way... PDATES! Due to a major snafu with our domain's registrar, Meckel-Gruber.org appeared as 'expired' for a few days. The site should NOT have 'expired'! Profound apologies to those who were seeking support or information and could not access the site during this time. It was beyond my control. MANY thanks are due to Blair , a representative with GoDaddy.com , for his patience, diligence and utmost attention in this unfortunate matter. Rest assured, this has been taken care of and should not have happened, but the likelihood of it happening again is slim to none thanks to the attention by Blair and the utilities available to Webmasters and Webmistresses at GoDaddy.com

5. Pathology Cases For Diagnosis is also known as MeckelGruber Syndrome (dysencephalia splanchnocystica). It is transmitted through autosomal recessive http://wwwpath.usuf2.usuhs.mil/Surg_Path/s98-01/98-01.html

Case 98-01: Pediatric Syndromes I Contributed by: R. L. Katz, LCDR, MC, USNR Objectives: 1. Discuss clinical presentation, clinical course, inheritance pattern for Meckel Syndrome. 2. Discuss the diagnostic features of Meckel Syndrome including those listed as "minimal diagnostic criteria." 3. List the different diagnostic considerations for Meckel Syndrome. History: A 20-year-old gravida one para female at 39 weeks estimated gestational age presented to Labor and Delivery with spontaneous rupture of membranes with baby in breech position. A primary, low transverse C-section was performed with birth of a liveborn infant female. Apgar scores at one minute were one, five minutes one, and ten minutes four, with difficult ventilation (inadequate oxygenation despite maximal ventilatory settings). Multiple congenital anomalies were noted at birth. Ventilatory support was discontinued and the infant expired at approximately five hours of life. Permission for a full autopsy was granted by the infant's parents. Illustrations Figure 1 Posterior view of head showing occipital encephalocele and microcephaly Figure 2 Ear anomalies.

6. G.4 ^9 Gruber, dysencephalia splanchnocystica, Meckel, Hanhart (V). http://www.eksi.kz/consilium/librar/laz_g_4.htm

Ñèíäðîì Greenfield Ñèíäðîì Gregg Ñèíäðîì Greig Ñèíäðîì Greither ... Ñèíäðîì Gunn ^2 Ñèíäðîì Gregg, embryopathia rubeolaris. Gregg Norman McAllister, àâñòðàëèéñêèé âðà÷. ðåããà ñ.-êîìïëåêñ âðîæäåííûõ àíîìàëèé ó íîâîðîæäåííûõ, ìàòåðè êîòîðûõ â òå÷åíèå ïåðâûõ 3 ìåñ áåðåìåííîñòè áîëåëè êðàñíóõîé: âðîæäåííàÿ êàòàðàêòà, àíîìàëèè ñåò÷àòêè, àòðîôèÿ çðèòåëüíîãî íåðâà, ìèêðîôòàëüì, íèñòàãì; ãëóõîòà â ðåçóëüòàòå íàðóøåíèÿ ðàçâèòèÿ âíóòðåííåãî óõà, ðàçëè÷íûå íàðóøåíèÿ ðàçâèòèÿ ñðåäíåãî è íàðóæíîãî óõà; âðîæäåííûå ïîðîêè ñåðäöà (ïðåèìóùåñòâåííî äåôåêòû ïåðåãîðîäîê è íåçàðàùåíèå áîòàëëîâà ïðîòîêà). Ìèêðîöåôàëèÿ, ðàññòðîéñòâà äåÿòåëüíîñòè ÖÍÑ (ýêñòðàïèðàìèäíûå ñèìïòîìû, çàäåðæêà óìñòâåííîãî ðàçâèòèÿ, òîíè÷åñêèå è êëîíè÷åñêèå ñóäîðîãè). èïîïëàçèÿ çóáíîé ýìàëè, çàïîçäàëîå ïðîðåçûâàíèå çóáîâ, çóáíîé êàðèåñ. Àíîìàëèè ïî÷åê, êðèïòîðõèçì, ãèïîñïàäèÿ, êîñîëàïîñòü. ^3 Ñèíäðîì Greig, hypertelorismus Greig, hypertelorismus familiaris. Greig David Middleton (18641936), øîòëàíäñêèé âðà÷. ðåéãà ñ. - êîìïëåêñ íàñëåäñòâåííûõ àíîìàëèé ñ ãèïåðòåëîðèçìîì â êà÷åñòâå âåäóùåãî ñèìïòîìà (àóòîñîìíî-äîìèíàíòíîå íàñëåäîâàíèå): ãèïåðòåëîðèçì, øèðîêàÿ ñïèíêà íîñà, áðàõèöåôàëèÿ, ìèêðîöåôàëèÿ, ìàëûé ðîñò, êðèïòîðõèçì; ïóïî÷íàÿ ãðûæà (íå âñåãäà); êîñîëàïîñòü; êëèíîäàêòèëèÿ (íå âñåãäà); àíîìàëèè ÷åëþñòåé è çóáîâ (íå âñåãäà); ÷àñòîîëèãîôðåíèÿ, ñóäîðîæíûå ïðèïàäêè è ïèãìåíòíàÿ äèñòðîôèÿ ãëàçíîãî äíà. ^4 Ñèíäðîì Greither, keratosis extremitatum hereditaria progrediens. Greither Aloys, íåìåöêèé äåðìàòîëîã. ðåéòåðà ñ. - ðàçíîâèäíîñòü íàñëåäñòâåííîãî äèñêåðàòîòè÷åñêîãî äåðìàòîçà (àóòîñîìíî-äîìèíàíòíîå íàñëåäîâàíèå): êåðàòîç îáåèõ ïîâåðõíîñòåé ëàäîíåé è ñòîï; îðîãîâåâøèå ñëèâàþùèåñÿ ïàïóëû íà íîãàõ; ëåéêîêåðàòîç ãóá; ïîéêèëîäåðìèÿ ëèöà è êîíå÷íîñòåé [508].

7. Dysmorphic Syndromes METAPHYSEAL DYSPLASIA); MECKELGRUBER SYNDROME (dysencephalia splanchnocystica);MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS; MEIGE http://www.hgmp.mrc.ac.uk/DHMHD/view_human.html

View Dysmorphic Syndrome Features Select a dysmorphic syndrome by clicking on the relevant item: AAGENAES - RECURRENT CHOLESTASIS; LYMPHOEDEMA AARSKOG SYNDROME AASE - TRIPHALANGEAL THUMB; CONGENITAL ANAEMIA AASE-SMITH - HYDROCEPHALUS; CLEFT PALATE; JOINT CONTRACTURES ... ZWETSLOOT (1989) - HOLOPROSENCEPHALY; MICROPHTHALMIA

8. Home Uncle of a newborn who died from this rare genetic syndrome describes the condition and the foundation he began with the child's father. (aka Gruber's syndrome and dysencephalia splanchnocystica.). Thank you for your interest and for visiting this site. http://www.meckel-gruber.org/

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9. B16760 PNG MEDICAL JUNE 98 misspildungen (Akrocephalosyndactilie und. dysencephalia splanchnocystica). Beitr Pathol. Anat 1934;93459. http://www.pngimr.org.pg/Meckel-Gruber%20syndrome%20-%20June%201998.pdf

10. Neural Tube Defects been confusing P Meckel Gruber dysencephalia splanchnocystica Syndrome Images- Prenatal Diagnosis - H van der Slikke, MD Elevated maternal and amniotic http://ibis-birthdefects.org/start/ntdfact.htm

Tips for printing Neural Tube Defects - Anencephaly - NTD - Spina Bifida About I.B.I.S. Home Search Topics Search all contents ... "In the News" Messages... Questions/comments Report Dead Links S.O.S. - Exchange Join I.B.I.S. ... Etchings Anencephaly Encephalocele Folic Acid or FA Hydrocephalus - Arnold Chiari - Allied Disorders Meningocele - Meningomyelocele - Meningoencephalocele Meckel or Meckel Gruber or Dysencephalia splachnocystica Neural Tube Defects NTD Spina Bifida Special Resources Neural Tube Defects - Spina Bifida A Selection of Internet Sites [*] Outstanding [P] For Professionals [S] Support Group [Spanish] [Ukrainian] [*][P] Folic Acid for the Prevention of Neural Tube Defects Policy Statement - American Academy of Pediatrics (1993). "NTDs are among the most common birth defects that result in infant mortality and serious disability ..." Knowledge and Use of Folic Acid by Women of Childbearing Age JAMA Women's Health and MMWR report. Results of the 1998 March of Dimes Birth Defects Foundation sponsored Gallup Organization survey of 2115 women. Folic Acid National Campaign - CDC, March of Dimes ... National Campaign on Folic Acid - Gate Page Folic Acid for Healthy Babies Prevention Model and Resource Guide NTD - Frequently asked Questions " ... how can women get folic acid? ... "

11. Meckel (Gruber) Syndrome HOME Meckel (Gruber) Syndrome (dysencephalia splanchnocystica). MeckelSyndrome; MeckelGruber syndrome; Meckel-Gruber Syndrome; Features 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

12. Neural Tube Defects P Meckel Gruber dysencephalia splanchnocystica Syndrome. Images - Prenatal Diagnosis - H van der Slikke, MD http://www.ibis-birthdefects.org/start/ntdfact.htm

Tips for printing Neural Tube Defects - Anencephaly - NTD - Spina Bifida About I.B.I.S. Home Search Topics Search all contents ... "In the News" Messages... Questions/comments Report Dead Links S.O.S. - Exchange Join I.B.I.S. ... Etchings Anencephaly Encephalocele Folic Acid or FA Hydrocephalus - Arnold Chiari - Allied Disorders Meningocele - Meningomyelocele - Meningoencephalocele Meckel or Meckel Gruber or Dysencephalia splachnocystica Neural Tube Defects NTD Spina Bifida Special Resources Neural Tube Defects - Spina Bifida A Selection of Internet Sites [*] Outstanding [P] For Professionals [S] Support Group [Spanish] [Ukrainian] [*][P] Folic Acid for the Prevention of Neural Tube Defects Policy Statement - American Academy of Pediatrics (1993). "NTDs are among the most common birth defects that result in infant mortality and serious disability ..." Knowledge and Use of Folic Acid by Women of Childbearing Age JAMA Women's Health and MMWR report. Results of the 1998 March of Dimes Birth Defects Foundation sponsored Gallup Organization survey of 2115 women. Folic Acid National Campaign - CDC, March of Dimes ... National Campaign on Folic Acid - Gate Page Folic Acid for Healthy Babies Prevention Model and Resource Guide NTD - Frequently asked Questions " ... how can women get folic acid? ... "

13. Birth Disorder Information Directory - M Meckel (Gruber) Syndrome (dysencephalia splanchnocystica) List ofSites. MeckelLike Syndrome See Cerebrorenodigital Syndrome. Medial http://www.bdid.com/defectm.htm

HOME M Machado Joseph Disease (Autosomic Dominant Spinocerebellar Ataxia, Autosomic Dominant Cerebellar Ataxia, Cerebelloolivary Atrophy, Olivopontocerebellar Atrophy, Pierre Marie Cerebellar Ataxia) List of Sites Macrencephaly List of Sites Macrocephaly List of Sites Macrodactyly/Megalodactyly Macrodactly of the Right Foot Macrodactyly of Both Hands and Foot Associated with Cutaneous Hemangiomata MEGALODACTYLY Macroglossia Macroglossia (Includes Ultrasounds and Photos) Also see Beckwith Wiedemann Syndrome Blomstrand Syndrome Congenital Hypothyroidism Mucopolysaccharidosis and Simpson Golabi Behmel Syndrome Macrogyria MACROGYRIA Asperger's Syndrome Macular Dystrophy Vitelliform See Best Disease/Macular Dystrophy Atypical MACULAR DYSTROPHY, ATYPICAL VITELLIFORM; VMD1 Macules Hereditary Congenital Hypopigmented and Hyperpigmented See Westerhof Beemer Cormane Syndrome Madelung's Deformity See Leri Weill Syndrome Majewski Syndrome See Short Rib-Polydactyly Syndrome, Type IV Mal de Meleda See Meleda Disease Male Pseudohermaphroditism Due to 5-Alpha-Reductase Deficiency See Pseudovaginal Perineoscrotal Hypospadias Due to Androgen Insensitivity See Androgen Insensitivity Syndrome Male Turner Syndrome See Noonan Syndrome Malignant Hyperthermia See Hyperthermia, Malignant

14. Searchalot Directory For D Dry Eye (5); Duane Retraction Syndrome (4); Dubowitz Syndrome (5);Dwarfism (10); dysencephalia splanchnocystica (5); Dysmenorrhea (12 http://www.searchalot.com/Top/Health/ConditionsandDiseases/D/

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15. Definitions Of Genetic Disorders-D. definitions of genetic disorders and birth defects dysencephalia splanchnocystica (Meckel) http//www.stepstn.com/nord/rdb_sum/661. htm http://aspin.asu.edu/geneinfo/def-d.htm

16. Health Library - Meckel Syndrome Synonyms. dysencephalia splanchnocystica; Gruber Syndrome; MeckelGruberSyndrome; MES; MKS. Disorder Subdivisions. None. General Discussion. http://health_info.nmh.org/Library/HealthGuide/IllnessConditions/topic.asp?hwid=

17. D In Health > Conditions And Diseases Dwarfism@ (10); dysencephalia splanchnocystica@ (4); Dysmenorrhea@ (12); Dyspareunia@(3); Dysphagia@ (7); Dystonia Musculorum Deformans@ (3). S. earch. Find D on http://ilectric.com/browse/web/Health/Conditions_and_Diseases/D/

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18. EMedicine - Meckel-Gruber Syndrome : Article By Suzanne M Carter, MS MeckelGruber syndrome, an introduction, clinical, differentials, work up, treatment and follow up.Category Health Conditions and Diseases Meckel-Gruber Syndrome......Synonyms and related keywords MKS, dysencephalia splanchnocystica,Gruber syndrome, Meckel syndrome type 1, MKS1, MES. 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

19. EMedicine - Meckel-Gruber Syndrome : Article Excerpt By: Suzanne M Carter, MS Synonyms, Key Words, and Related Terms MKS, dysencephalia splanchnocystica,Gruber syndrome, Meckel syndrome type 1, MKS1, MES. 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.

20. Search By Disease 111 Dyschondrosteosis (DCO). 112 dysencephalia splanchnocystica. 113 Dyserythropoieticanemia, congenital, type II. 114 Dyserythropoietic anemia, hempas type. http://www.eddnal.com/directory/disease.php?letter=D&page=8

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