1. Joubert Syndrome JoubertBoltshauser syndrome. cerebellar vermis agenesis. cerebelloparenchymal disorder IV (CPD IV) http://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome375.html

Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes View the Full Record Syndrome Joubert syndrome Synonyms Joubert-Boltshauser syndrome cerebellar vermis agenesis cerebelloparenchymal disorder IV (CPD IV) Summary Partial or complete absence of the cerebellar vermis, episodic tachypnea, neonatal apnea, jerky eye movements, hypotonia, ataxia, impaired equilibrium, and mental handicap. Leber amaurosis (blindness with normal optic fundi and brain and kidney abnormalities) may be associated. Major Features Eyes: Abnormal movement and chorioretinal coloboma, blepharoptosis, and retinal dysplasia. Mouth and oral structures: Tongue tumors and protrusion. Hand and foot: Polydactyly. Muscles: Hypotonia. Nervous system: Hypoplasia or aplasia of the cerebellar vermis and occasional occipital meningoencephalocele in association with hemifacial spasms and ataxia. Tomographic findings include dilated cisterna magna and lack of the parenchyma in the midline between cisterna magna and fourth ventricle with enlarged communication between the two parts. Gastrointestinal system: Duodenal atresia in some cases. Fibrosis in some cases.

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

HOME Ca-Cl C Syndrome (Opitz Trigonocephaly Syndrome) C SYNDROME Opitz Trigonocephaly Syndrome Family Network c syndrome C-II Anapolipoproteinemia See Hyperlipoproteinemia, Type Ib CADASIL See Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (Includes Photos) Cafe au lait spots syndrome CAFE-AU-LAIT SPOTS, MULTIPLE Caffey Disease (Infantile Cortical Hyperostosis) List of Sites Cahmr Syndrome (Cataract Hypertrichosis Mental Retardation) cahmr syndrome CAHMR SYNDROME Calcinosis Raynaud Phenomenon with Sclerodactyly and Telangiectasis See CREST Syndrome Calderon Gonzalez Cantu Syndrome (Hair Defect Photosensitivity Mental Retardation) calderon gonzalez cantu syndrome HAIR DEFECT WITH PHOTOSENSITIVITY AND MENTAL RETARDATION Calloso Genital Dysplasia calloso genital dysplasia Callus Disease Outpatient Clinics in France Calpainopathy See Muscular Dystrophy, Limb-Girdle Type, Type IIa Calvarial Hyperostosis calvarial hyperostosis CALVARIAL HYPEROSTOSIS Camera Lituania Cohen Syndrome (Genes Syndrome, Genoa Syndrome, Holoprosencephaly Craniosynostosis) camera lituania cohen syndrome HOLOPROSENCEPHALY, SEMILOBAR, WITH CRANIOSYNOSTOSIS

3. Health Library - Joubert Syndrome Synonyms. cerebellar vermis agenesis, Hypernea, EpisodicEye Moves-Ataxia-Retardation;Cerebellar Vermis Aplasia; Vermis Cerebellar Agenesis. Disorder Subdivisions. http://health_info.nmh.org/Library/HealthGuide/IllnessConditions/topic.asp?hwid=

4. ORPHANET® : Base De Données Sur Les Maladies Rares Et Les Médicaments Orpheli hypoplasia Cerebellar hypoplasia endosteal sclerosis Cerebellar hypoplasia tapetoretinaldegeneration cerebellar vermis agenesis Cerebelloparenchymal disorder http://www.orpha.net/Pat/GBC.html

List of diseases starting by C Cacchi-Ricci disease CACH syndrome CADASIL Cafe au lait spots syndrome ... Czeizel syndrome

5. Jouberts.html Direct access to details. Alias cerebellar vermis agenesis http://www.indiana.edu/~pietsch/joubert.html

go to Shufflebrain main menu JOUBERT'S SYNDROME web contact: pietsch@indiana.edu Joubert's syndrome is a rare condition in which the middle part of the cerebellum (the vermis) doesn't properly form . The cerebellum helps regulate dynamic musclular activities such as dancing or playing musical instruments or complex movements of the tongue and vocal muscles. Below are the results of a recent survey of the scientific literature on subject to October 2000. For general information click here. A literature search at Indiana University, Bloomington, Indiana The following MEDLINE items were compiled by SilverPlatter and are presented with their generous co-operation and permission. ( See SilverPlatter's Worldwide Library for bibliographic search information Record 1 of 15 in MEDLINE EXPRESS (R) 1999/11-1999/12 TITLE: Joubert's syndrome and prenatal hydrocephalus. AUTHOR(S): Anderson-JS; Gorey-MT; Pasternak-JF; Trommer-BL ADDRESS OF AUTHOR: Northwestern University School of Medicine, and Division of Neuroradiology, Evanston Hospital, Illinois 60201, USA. SOURCE (BIBLIOGRAPHIC CITATION): Pediatr-Neurol. 1999 May; 20(5): 403-5

6. Joubert's Syndrome (www.whonamedit.com) Joubert's syndrome Also known as JoubertBoltshauser syndrome SynonymsSynonym familial cerebellar vermis agenesis. Associated http://www.whonamedit.com/synd.cfm/2702.html

Home List categories Eponyms A-Z Biographies by country ... Contact 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). The name Joubert’s syndrome was suggested by Eugen Boltshauser and Werner Isler in 1977. Bibliography: A.De Haene:

7. Syndrome DB - Table Of Contents centromeric instabilityimmunodeficiency syndrome centronuclear myopathy (CNM) cephalopolysyndactylysyndrome cerebellar vermis agenesis cerebellar vermis hypo http://www.nlm.nih.gov/mesh/jablonski/syndrome_toc/toc_c.html

Multiple Congenital Anomaly/Mental Retardation Syndromes Table of Contents Return to Entry Page A B C ... Z C C syndrome Caffey pseudo-Hurler syndrome Caffey syndrome Calabro syndrome ... U.S. National Library of Medicine , 8600 Rockville Pike, Bethesda, MD 20894 National Institutes of Health Privacy Accessibility Last updated: 20 November 2001

8. Syndroom Van Joubert Synoniemen cerebellar vermis agenesis Hypernea EpisodicEye Moves-Ataxia-RetardationCerebellar Vermis Aplasia Cerebellarparenchymal Disorder IV http://www.erfocentrum.nl/zena/joube.php

erfelijkheid.nl winkel mail ons nieuwsbrief ... sitemap ZIEKTEN EN AANDOENINGEN ERFELIJKHEID LITERATUUR (PARA)MEDICI Beginpagina ... Ziekten en aandoeningen Syndroom van Joubert 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 Extreem zeldzaam.

9. MUMS List Of Disorders - C Pontine Hypoplasia (2); cerebellar vermis agenesis (10); CerebellarVermis Hypoplasia (5); Cerebral Atrophy (20); Cerebral Giantism http://www.netnet.net/mums/mum_c.htm

Return to MUMS Home Page MUMS: List of Disorders C Number in parentheses indicates number of matches. indicates there is a support group which covers that diagnosis. C-PAP (14) CATCH 22 Syndrome(DiGeorge+Velo-Cardio-Facial+Conotruncal) (5) * CHARGE Syndrome (49) * CHARGE-VATER Syndrome (2) Calcium Deficiency (26) Campomelic Dysplasia Syndrome (11) * Camptodactyly (5) Canavan's Leukodystrophy (3) * www.canavan.org/ Cancer (135) * www.cancer.org and www.candlelighters.org Cancer, Acute Lymphatic Leukemia (ALL) (6)* Cancer, Anoplastic Oligodendroglioma Tumor (1) Cancer, Chordoma (Spinal Tumor) (1) * Cancer, Ewings Sarcoma (6) * Cancer, Ovaries (1) * Cancer, Primary Neuroectodermal Tumor of the Spine (PNET) (2) * Cancer, Rhabdomyosarcoma (4)* Candida Yeast Infection (7) Carbamyl Phosphate Synthetase Deficiency (CPS) (2) * Carbohydrate-Deficient Glycoprotein Syndrome (CDGS) (8) * Carbon Monoxide Poisoning (2) Cardiac Pacemaker (23) Cardio-Facio-Cutaneous Syndrome (19) ** Cardiomyopathy (36) * www.childrenscardiomyopathy.org

10. WebMD - Cerebellar Hypoplasia nord Cerebellar Syndrome nord cerebellar vermis agenesis,Hypernea, EpisodicEye Moves-Ataxia-Retardation nord Cerebellar Vermis http://my.webmd.com/content/healthwise/124/30787.htm

WebMD Today Home WebMD Newscenter Member Services WebMD University My WebMD Find a Doctor, Clinic Medical Info Check Symptoms Medical Library Quizzes, Calculators Clinical Trials ... Family Genetics Who We Are About WebMD Health Mall Sponsored: Lose Lbs Naturally Heart Failure? Trouble Focusing? You are in Medical Library Choose a Topic Our Content Sources Health Guide A-Z Ask A Question Clinical Trials Health Topics Symptoms Medical Tests Wellness ... Support Organizations Search the Help All Topics Click a letter to see a list of topics beginning with that letter A B C D ... CY C C Syndrome [nord] back to top C- C-Peptide [medical-test-topic] C-Reactive Protein (CRP) [medical-test-topic] C-section [special-topic] back to top C. C.A.I.R. (Changing Attitudes in Recovery) - Mental Health (General) [shc] C.A.S.A. (Cleptomaniacs And Shoplifters Anonymous) - Crime Victims / Offenders [shc] C.M.T. International - Charcot-Marie-Tooth [shc] C.U.S.A - Disabilities (General) / Spinal Cord Injury / Paralysis [shc] ... back to top CA Ca (Calcium), Blood [medical-test-topic] Ca (Calcium), Urine [medical-test-topic] CA-125 (Cancer Antigen) Test [medical-test-topic] Cacchi-Ricci Disease [nord] ... back to top CB CBC (Complete Blood Count) [medical-test-topic] CBGD [nord] CBGD (Corticobasal Ganglionic Degeneration) Support Network - Cortico-Basal Ganglionic Degeneration [shc] CBPS [nord] ... back to top CC CCA [nord] CCD Central Core Disease [nord] CCD Cronkhite Canada Disease [nord] CCHS [nord] ... back to top CD CD [nord] CD4+ counts (T-lymphocyte measurements) in HIV infection [test-detail] CDC National AIDS/HIV Hotline - AIDS Helplines [shc] CDC National Prevention Information Network - AIDS Helplines [shc] ... back to top CE

11. Cerebellar Vermis Agenesis Plus Another Anomalies (codes) Name JOUBERT SYNDROME Synonyms, cerebellar vermis agenesis plus another anomalies(codes). cerebellar vermis aplasia plus other anomalies (codes). http://malattierare.pediatria.unipd.it/pubblicaMR/mr_dx_ing.asp?mr=191

12. Searchalot Directory For C Causalgia (6); Celiac Disease (42); Central Pontine Myelinolysis (3);Cerebellar Diseases (4); cerebellar vermis agenesis (5); Cerebral http://www.searchalot.com/Top/Health/ConditionsandDiseases/C/

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13. MSN Health - Cerebellar Hypoplasia shc Cerebellar Syndrome nord cerebellar vermis agenesis,Hypernea, EpisodicEye Moves-Ataxia-Retardation nord Cerebellar Vermis http://content.health.msn.com/content/healthwise/124/30787.htm

MARCH 30, 2003 Join Sign In Search Health: Health Home Condition Centers Fitness Staying Well Clinical Trials Medical Library Library Overview Ask A Question Health-E-Meters Medical Encyclopedia ... Quick Facts [sponsored] Children's Growth Heart Failure? Insulin-dependent? [sponsored] Parkinson's Help Home Defibrillator Trouble Focusing? For the latest MSNBC Health News, click here. Medical Library Medical Encyclopedia Article Health Topics Symptoms Medical Tests Wellness ... Support Organizations Search the Help All Topics Click a letter to see a list of topics beginning with that letter A B C D ... CY C C Syndrome [nord] back to top C- C-Peptide [medical-test-topic] C-Reactive Protein (CRP) [medical-test-topic] C-section [special-topic] back to top C. C.A.I.R. (Changing Attitudes in Recovery) - Mental Health (General) [shc] C.A.S.A. (Cleptomaniacs And Shoplifters Anonymous) - Crime Victims / Offenders [shc] C.M.T. International - Charcot-Marie-Tooth [shc] C.U.S.A - Disabilities (General) / Spinal Cord Injury / Paralysis [shc] ... back to top CA Ca (Calcium), Blood [medical-test-topic]

14. C Myelinolysis; @ Cerebellar Diseases; @ cerebellar vermis agenesis; @ CerebralAbscess; @ Cerebral Edema; @ Cerebral Gigantism; @ Cerebral Palsy; http://www.ad.com/Health/Conditions_and_Diseases/C/

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15. Browsing Health Conditions And Diseases C Category Syndrome CatScratch Disease Cataracts Causalgia Celiac Disease Central PontineMyelinolysis Cerebellar Diseases cerebellar vermis agenesis Cerebral Abscess http://www.uksprite.com/search/search/Health/Conditions_and_Diseases/C/

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16. 1Up Health > Health Links Directory > Conditions And Diseases: C 15) CatScratch Disease (2) Causalgia (6) Celiac Disease (43) Central Pontine Myelinolysis(3) Cerebellar Diseases (4) cerebellar vermis agenesis (5) Cerebral http://www.1uphealth.com/links/conditions-and-diseases-c.html

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17. C Website Results :: Linkspider UK Causalgia@ (6); Celiac Disease@ (42); Central Pontine Myelinolysis@ (3);Cerebellar Diseases@ (4); cerebellar vermis agenesis@ (5); Cerebral http://www.linkspider.co.uk/Health/ConditionsandDiseases/C/

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18. Katalog :  : Health : Conditions_and_Diseases : C :  - Netz-Tipp.De Causalgia (*); Celiac Disease (*); Central Pontine Myelinolysis (*); CerebellarDiseases (*); cerebellar vermis agenesis (*); Cerebral Abscess http://www.netz-tipp.de/kat/Health/Conditions_and_Diseases/C/

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19. Open Directory - Health: Conditions And Diseases: C Causalgia@ (6); Celiac Disease@ (43); Central Pontine Myelinolysis@ (3);Cerebellar Diseases@ (4); cerebellar vermis agenesis@ (5); Cerebral http://www.mptdo.com/Health/Conditions_and_Diseases/C/

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20. :: TopSpecialist :: Specialisten Wijzer :: Ziektebeelden het Gehoor, therapie ziekten van Cephalosporin group Ceramidase Deficiëntie CeramideTrihexosidase Deficiëntie cerebellar vermis agenesis Cerebellar Vermis http://www.topspecialist.nl/ziekte/c.htm

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