1. Joubert Syndrome cerebellar vermis agenesis, Hypernea, EpisodicEye Moves-Ataxia-Retardation;Cerebellar Vermis Aplasia; Cerebellarparenchymal Disorder IV http://my.webmd.com/hw/health_guide_atoz/nord20.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 You are in Medical Library Choose a Topic Our Content Sources Ask A Question Clinical Trials Health Guide A-Z Health Topics Symptoms Medical Tests Medications ... For a Complete Report Joubert Syndrome Important It is possible that the main title of the report Joubert 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 Cerebellar Vermis Agenesis, Hypernea, Episodic-Eye Moves-Ataxia-Retardation Cerebellar Vermis Aplasia Cerebellarparenchymal Disorder IV Cerebelloparenchymal Disorder IV Familial Chorireninal Coloboma-Joubert Syndrome Hyperpnea, Episodic-Abnormal Eye Movement Joubert-Bolthauser Syndrome Kidneys, Cystic-Retinal Aplasia Joubert Syndrome

2. Joubert Syndrome Cerebellar Vermis Agenesis-Hypernea-Episodic Eye Joubert Syndrome cerebellar vermis agenesisHypernea-Episodic Eye Moves-Ataxia-Retardation Cerebellar Vermis Aplasia Cerebellarparenchymal Disorder http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

3. Index Cerebellar Hypoplasia Cerebellar Syndrome cerebellar vermis agenesis, Hypernea,EpisodicEye Moves-Ataxia-Retardation Cerebellar Vermis Aplasia http://my.webmd.com/hw/index/index-topics-C.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 You are in Medical Library Choose a Topic Our Content Sources Ask A Question Clinical Trials Health Guide A-Z Health Topics Symptoms Medical Tests Medications ... Support Organizations Search the Help Health Topics Click a letter to see a list of topics beginning with that letter A B C D ... CY C C Syndrome back to top C1-INH back to top CA Cacchi-Ricci Disease CAD (Coronary Artery Disease) CAH Calcaneal Valgus ... back to top CB CBGD CBPS back to top CC CCA CCD Central Core Disease CCD Cronkhite-Canada Syndrome CCHS ... back to top CD CD CDGP CDGS Type Ia CDI ... back to top CE CED Celiac Disease Cellulitis Celsus' Vitiligo ... back to top CF CF (Cystic Fibrosis) CFC syndrome Cardiofaciocutaneous Syndrome CFND CFS ... back to top CG CGD Granulomatous Disease, Chronic CGD Growth Delay, Constitutional CGF back to top CH Chagas Disease Chalasodermia, Generalized

4. Definitions Of Genetic Disorders-V arrhythm.htm Venual Malformations hemang.htm VEOHD huntington.htm Vermis Aplasia joubert.htm Vermis Cerebellar Agenesis joubert.htm http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

5. Entrez PubMed Two brothers with motor retardation since the first months of life presentedwaddling ataxicgait wi http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=3

6. Webkatalog Webkatalog des Fit Gesundbereichs http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

7. Birth Disorder Information Directory - A Agammaglobulinemia. List of Sites Agenesis of the Cerebellar Vermis. List of Sites Agenesis of the Corpus Callosum. List of Sites. Related Books http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

8. Agenesis Of The Cerebellar Vermis Agenesis of the Cerebellar Vermis. Familial Agenesis of the Cerebellar Vermis. Agenesis of the Cerebellar Vermis http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

9. Syndroom Van Joubert Syndroom van Joubert. Synoniemen cerebellar vermis agenesis Hypernea EpisodicEyeMoves-Ataxia-Retardation Cerebellar Vermis Aplasia http://www.erfelijkheid.nl/zena/joube.php

A B C D ... OVERIG Syndroom van Joubert Synoniemen Cerebellar Vermis Agenesis Hypernea Episodic-Eye Moves-Ataxia-Retardation Cerebellar Vermis Aplasia Cerebellarparenchymal Disorder IV Cerebelloparenchymal Disorder IV Familial Chorireninal Coloboma-Joubert Syndrome Hyperpnea Episodic-Abnormal Eye Movement Joubert-Bolthauser Syndrome Kidneys Cystic-Retinal Aplasia Joubert Syndrome Polydactyly-Joubert Syndrome Retinal Aplastic-Cystic Kidneys-Joubert Syndrome Vermis Aplasia Vermis Cerebellar Agenesis Korte beschrijving Het syndroom is een bijzonder zeldzame neurologische aandoening. De hersenstructuur is onvoldoende ontwikkeld, wat een verminderde spierspanning, ontwikkelingsachterstand, abnormale ademhaling en abnormale oogbeweging als gevolg heeft. Diagnose De diagnose kan worden gesteld door intensief neurologisch onderzoek. Behandeling Er is geen behandeling bekend voor het syndroom van Joubert. Voorkomen (frequentie) Extreem zeldzaam. Overerving Autosomaal recessief ( zie de animatie 'overerving en dragerschap' Meer informatie BOSK Vereniging van motorisch gehandicapten en hun ouders Joubert Syndrome Foundation Informatie, engelstalig

10. BBC - Health - Conditions - Joubert Syndrome Joubert syndrome (also known as cerebellar vermis agenesis or cerebelloparenchymal disorder IV) is a rare inherited disorder of the brain. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

11. Joubert's Syndrome (www.whonamedit.com) Synonym familial cerebellar vermis agenesis. Associated persons Familialagenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, http://www.whonamedit.com/synd.cfm/2702.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 Joubert's syndrome Also known as: Joubert-Boltshauser syndrome Synonyms: Synonym: familial cerebellar vermis agenesis. Associated persons: Eugen Boltshauser Marie Joubert Description: A rare familial syndrome characterised by episodic panting in the newborn and jerky eye movements in the neonatal period with later the development of mental retardation, cerebellar ataxia and episodic hyperpnoea with hyperventilation. Pathological features are brainstem malformation and agenesis of the vermis of the cerebellum. Both sexes affected, onset in early infancy. Mast patients die in infancy or early childhood. The syndrome is believed to be transmitted as an autosomal recessive trait. Etiology unknown. In 1969 Marie Joubert et al described 4 siblings of consanguineous parents. Her first patient was a boy who was admitted to the Montreal Children's Hospital when he was six months old. This patient is still alive (2002).

12. Joubert Syndrome Synonyms. cerebellar vermis agenesis, Hypernea, EpisodicEye Moves-Ataxia-Retardation. Cerebellar Vermis Aplasia. Cerebellarparenchymal Disorder http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

13. Joubert Syndrome - Patient UK familial cerebellar vermis agenesis; cerebellooculorenal syndrome 1. Joubert M et al; Familial agenesis of the cerebellar vermis. http://www.patient.co.uk/showdoc/40001737/

PatientPlus articles are written for doctors and so the language can be technical. However, some people find that they add depth to the articles found in the other sections of this website which are written for non-medical people. Joubert Syndrome Synonyms: Joubert-Boltshauser syndrome; cerebelloparenchymal disorder IV; familial cerebellar vermis agenesis; cerebellooculorenal syndrome 1. A rare familial syndrome characterised by absence or malformation of the cerebellar vermis. Transmitted as an autosomal recessive trait (genetic heterogeneity - chromosome 9 is a possible candidate). Presentation Onset is in early infancy with abnormally rapid breathing , jerky eye movements, mental retardation , hemifacial spasms, seizures and ataxia. Abnormal behaviour, including self-mutilation, may develop. Signs A range of physical deformities may be present and these include chorioretinal coloboma and retinal dysplasia, tongue protrusion, polydactyly and hypotonia. Investigations MRI findings include dilated cisterna magna, Occipital meningoencephalocele, Dandy-Walker malformation, hypoplasia of the corpus callosum, retrobulbar cystic mass. Abdominal ultrasound may show cystic kidneys. Management Treatment is symptomatic and supportive and will include physiotherapy, occupational and speech therapy. The parents will need a great deal of support.

14. Health - Conditions And Diseases - C Auditory Processing Disorders@ (21) Central Pontine Myelinolysis@ (2) Cerebellar Diseases@ (4) cerebellar vermis agenesis@ (7) Cerebral http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

15. ThirdAid.com - The World S First Dedicated Online Patient To (Kidneys, CysticRetinal Aplasia Joubert Syndrome , Vermis Cerebellar Agenesis Cerebelloparenchymal Disorder IV Familial , cerebellar vermis agenesis, http://www.thirdaid.com/index/qfm/fuseaction/registrationStep3/letter/J

16. Cerebellar Vermis Aplasia Vermis Aplasia; Cerebellarparenchymal Joubert Syndrome cerebellar vermis agenesisHypernea-Episodic Eye Joubert Syndrome Cerebellar Vermis http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

17. 213300 JOUBERT SYNDROME 1; JBTS1 CEREBELLOPARENCHYMAL DISORDER IV CPD IV cerebellar vermis agenesis, INCLUDEDCEREBELLOOCULORENAL SYNDROME 1, INCLUDED; CORS1, INCLUDED http://srs.sanger.ac.uk/srsbin/cgi-bin/wgetz?[omim-ID:213300] -e

18. Agenesis Of Cerebellar Vermis Agenesis of Cerebellar Vermis. This response submitted by SHaron Gretz on 9/15/96 . He has agenesis of the vermis, and agenesis of the left cerebellar http://neuro-www.mgh.harvard.edu/neurowebforum/GeneralFeedbackArticles/Agenesiso

Agenesis of Cerebellar Vermis This response submitted by SHaron Gretz on 9/15/96. Author's Email: Sharong@nauticom.net I am very interested in hearing more about how it was that your son got diagnosed. I am also fairly confused by your use of the term Cerebral Palsy in reference to your son's cerebellar malformation. My son is five years old. He has agenesis of the vermis, and agenesis of the left cerebellar hemisphere and hypoplasia of the right hemisphere. Basically he has very little cerebelllum. Never has anyone ever put this neuroanatomy together with cerebral palsy. It is not a fit. Please contact me I would love to learn more. Also, have they ruled out Dandy Walker Malformation or Dandy Walker variant? Typically this is the diagnosis in cases of cerebellar vermal hypoplasia or agenesis. Sincerely, Sharon Gretz sharong@nauticom.net Return to Main Article Article complete. Click HERE to return to the Neurology Web-Forum Menu.

19. Birth Disorder Information Directory - CA-CL cerebellar vermis agenesis. See JoubertBoltshauser Syndrome. Cerebellar VermisHypo/Aplasia, Oligophrenia, Congenital Ataxia, Ocular Coloboma, http://www.bdid.com/defectca.htm

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20. Informationen Zu Vermis -etimark -maxicard -print-id -pps -inplastor -rcf -comtr Pontine Myelinolysis (2) Cerebellar Diseases (4) cerebellar vermis agenesis (7) familial cerebellar vermis agenesis; cerebellooculorenal syndrome 1. http://www.ins-netz.de/suche-16865-vermis--etimark--maxicard--print-id--pps--inp

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