Extractions: 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.
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
Extractions: HOME C Syndrome (Opitz Trigonocephaly Syndrome) C-II Anapolipoproteinemia CADASIL Caffey Disease (Infantile Cortical Hyperostosis) Cahmr Syndrome (Cataract Hypertrichosis Mental Retardation) Calcinosis Raynaud Phenomenon with Sclerodactyly and Telangiectasis Calderon Gonzalez Cantu Syndrome (Hair Defect Photosensitivity Mental Retardation) Calloso Genital Dysplasia Callus Disease Calpainopathy Calvarial Hyperostosis Camera Lituania Cohen Syndrome (Genes Syndrome, Genoa Syndrome, Holoprosencephaly Craniosynostosis) camera lituania cohen syndrome HOLOPROSENCEPHALY, SEMILOBAR, WITH CRANIOSYNOSTOSIS
Jouberts.html Direct access to details. Alias cerebellar vermis agenesis http://www.indiana.edu/~pietsch/joubert.html
Extractions: go to Shufflebrain main menu 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
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
Extractions: 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.
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
Syndroom Van Joubert Synoniemen cerebellar vermis agenesis Hypernea EpisodicEye Moves-Ataxia-RetardationCerebellar Vermis Aplasia Cerebellarparenchymal Disorder IV http://www.erfocentrum.nl/zena/joube.php
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
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
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
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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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
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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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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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/
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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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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