21. DBGET Result: OMIM 213300 CEREBELLOPARENCHYMAL DISORDER IV;; CPD IV cerebellar vermis agenesis, Computed tomography demonstrates hypoplasia of the cerebellar vermis. http://www.genome.jp/dbget-bin/www_bget?omim 213300

22. Jouberts.html Anatomic anomalies include cerebellar vermis agenesis with dilatation of thefourth ventricle. It is an autosomal recessive disorder; onset is in the 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

23. BBC - Health - Conditions - Joubert Syndrome Joubert syndrome (also known as cerebellar vermis agenesis or cerebelloparenchymaldisorder IV) is a rare inherited disorder of the brain. http://www.bbc.co.uk/health/conditions/joubert1.shtml

@import url('/includes/tbenh.css') ; Home TV Radio Talk ... A-Z Index FRIDAY 9th September 2005 Text only BBC Homepage Lifestyle Health ... Help Like this page? Send it to a friend! Joubert Syndrome Dr Trisha Macnair Joubert syndrome (also known as cerebellar vermis agenesis or cerebelloparenchymal disorder IV) is a rare inherited disorder of the brain. In this article Autosomal recessive inheritance Supportive treatment Normally the cerebellum (an area at the back of the brain which plays an important part in the control of balance and co-ordination) has two interconnected halves or hemispheres. However, in Joubert syndrome the connection between the two hemispheres of the cerebellum, known as the cerebellar vermis, fails to develop. As a result, one of the main features of Joubert syndrome is poorly controlled or unsteady movement, known as ataxia. Another area of the brain called the brain stem, which controls basic functions such as breathing, is also malformed. This results in an abnormal rapid breathing pattern, especially in very early childhood. An affected baby may pant or breath rapidly for a while (this is known as episodic tachypnoea) and then stop breathing (this is called apnoea). Many other features have also been described in Joubert syndrome (see the box below). The condition is diagnosed on the basis of physical features, symptoms and an MRI scan of the brain which shows typical abnormalities, including one in which some of the brain structures form the characteristic shape of a molar tooth.

24. SEMERC: Information Services: Glossary: J Joubert Syndrome or Familial cerebellar vermis agenesis. Features includenystagmus, ataxia, alternating hyperpnoea (rapid breathing) and apnoea (cessation http://www.semerc.com/information_services/a_z/j.asp

Search our online shop SEMERC Information Services: Glossary : J The SEMERC Glossary is kindly provided by David Fulton Publishing. Click on a letter to jump to the appropriate page. A B C D ... Z Jacksonian Epilepsy or Focal Epilepsy Seizures in which jerking spasms occur in one part of the body, sometimes spreading quickly to other areas, usually without loss of consciousness. The seizures occur in the part related to the irritated area of the brain and are due to a lesion in the cerebral cortex. (See also Epilepsy) Jaundice Yellowness of the skin and tissues, best seen in the eyes by natural light. Due to an excess of bile pigment in the tissues. Jaw-Winking Sign A condition in which the third and fifth cranial nerves are abnormally connected. One of the functions of the third nerve is the opening of the eyelid. As one of its functions, the fifth nerve controls the jaw muscles. In this disorder, the eyelid droops (ptosis) and opens when the jaw is moved. If the ptosis is severe or persistent, an operation to lift the eyelid may be necessary. A feature of some multiple abnormality syndromes. Joubert Syndrome or Familial Cerebellar Vermis Agenesis Features include: nystagmus, ataxia, alternating hyperpnoea (rapid breathing) and apnoea (cessation of breathing), lax muscle tone, learning difficulty. Due to failure of development of the vermis (a small structure within the cerebellum). Cause not established.

25. Dandy Walker Malformation Prenatal diagnosis now is possible by ultrasonography that may show posteriorfossa cyst and cerebellar vermis agenesis. Fetal MRI may confirm the diagnosis http://www.orpha.net/static/GB/dandy_walker_malformation.html

Orphanet database access Dandy walker malformation Direct access to data Summary Clinical signs Basilary impressions Dandy-walker anomaly Prominent occiput Frontal bossing Abnormal urinary tract/renal function Antenatal exposure : influenza Antenatal exposure : rubella Autosomal dominant inheritance Autosomal recessive inheritance Cardiac anomalies Cleft palate Corpus callosum/pellucidum agenesis Encephalocele/exencephaly Submicroscopic deletion/duplication Tetralogy of Fallot X-linked recessive inheritance Update : 04/09/2005 Orphanet database access

26. ORPHANET® : Base De Données Sur Les Maladies Rares Et Les Médicaments Orpheli Cerebellar hypoplasia tapetoretinal degeneration cerebellar vermis agenesis Cerebellar vermis hypoplasia oligophrenia - congenital ataxia - coloboma http://www.orpha.net/Pat/GBC.html

List of diseases starting by C C2 deficiency Cacchi-Ricci disease CACH syndrome CADASIL ... Czeizel syndrome

27. Rare Diseases Terms - Office Of Rare Diseases cerebellar vermis agenesis. JoubertBoltshauser Syndrome. Information aboutJoubert syndrome is available from. OMIM Logo, The Online Mendelian Inheritance http://ord.aspensys.com/asp/diseases/diseaseinfo.asp?ID=6802

28. Joubert Syndrome cerebellar vermis agenesis. cerebelloparenchymal disorder IV (CPD IV). Summary,Partial or complete absence of the cerebellar vermis, episodic tachypnea, 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.

29. Entrez PubMed DandyWalker syndrome and agenesis of the cerebellar vermis diagnostic problemsand genetic counselling. Bordarier C, Aicardi J. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=9

30. Cerebellar Disorders there is partial or complete agenesis of the cerebellar vermis, cystic formationof the posterior fossa communicationg with the fourth ventricle, http://www.tchain.com/otoneurology/disorders/central/cerebellar/cerebellar.htm

Cerebellar Disorders Timothy C. Hain, MD Return to Index Last update: 7/26/02. This page is meant to provide a general outline of cerebellar disorders. More specific and detailed material is found in links. What is the Cerebellum and what does it do ? The cerebellum is part of the brain. It lies under the cerebrum, towards the back, behind the brainstem and above the brainstem. The cerebellum is largely involved in "coordination". Persons whose cerebellum doesn't work well are generally clumsy and unsteady. The main clinical features of cerebellar disorders include incoordination, imbalance, and troubles with stabilizing eye movements. There are two distinguishable cerebellar syndromes midline and hemispheric. Midline syndromes are characterized by imbalance. Persons are unsteady, they are unable to stand in Romberg with eyes open or closed, and are unable to well perform tandem gait. Severe midline disturbance causes "trunkal ataxia" a syndrome where a person is unable to sit on their bed without steadying themselves. Some persons have "titubation" or a bobbing motion of the head or trunk. Midline cerebellar disturbances also often affect eye movements. There may be nystagmus, ocular dysmetria and poor pursuit. Hemispheric cerebellar syndromes are characterized by incoordination of the limbs. There may be decomposition of movement, dysmetria, and rebound. Dysdiadochokinesis is the irregular performance of rapid alternating movements. Intention tremors may be present on an attempt to touch an object. A kinetic tremor may be present in motion. The finger-to-nose and heel-to-knee tests are classic tests of hemispheric cerebellar dysfunction. While reflexes may be depressed initially with hemispheric cerebellar syndromes, this cannot be counted on. Speech may be dysarthric, scanning, or have irregular emphasis on syllables.

31. %220200 DANDY-WALKER SYNDROME; DWS The DWC constitutes complete or partial agenesis of the vermis, cystic dilatationof the fourth Partial or complete absence of cerebellar vermis; http://srs.sanger.ac.uk/srsbin/cgi-bin/wgetz?[omim-ID:220200] -e

32. Partial Midline Fusion Of The CerebellarHemispheres With Vertical Folia:A New Ce 006 Many conditions with cerebellar vermian dysgenesis or agenesis have beendescribed, The cerebellar vermis is formed upon fusion of the developing http://www.ajnr.org/cgi/content/full/20/6/1151

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article Abstract Figures Only Full Text (PDF) ... Citation Map Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager ... Cited by other online articles PubMed PubMed Citation Articles by Takanashi, J.-i. Articles by Kohno, Y. American Journal of Neuroradiology American Society of Neuroradiology ARTICLE Partial Midline Fusion of the CerebellarHemispheres with Vertical Folia:A New Cerebellar Malformation? Jun-ichi Takanashi ,a Katsuo Sugita a A. James Barkovich a Hideyuki Takano a and Yoichi Kohno a a From the Departments of Pediatrics, (J.T., Y.K.) and Radiology (H.T.), Faculty of Medicine, and the Department of Clinical Medicine (K.S.), Faculty of Education, University of Chiba, Japan; and the Department of Radiology, University of California, San Francisco (A.J.B). Abstract TOP Abstract Introduction Case Report Discussion Conclusion References Summary: MR imaging depicted vertically oriented folia instead of the normal horizontal folial pattern, hypoplastic cerebellar

33. Analysis And Classification Of Cerebellar Malformations -- Patel And Barkovich 2 This entity, lissencephaly with callosal agenesis and cerebellar One of ourpatients had absence of the cerebellar vermis, in addition to severe http://www.ajnr.org/cgi/content/full/23/7/1074

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article Abstract Figures Only Full Text (PDF) ... Citation Map Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager ... Cited by other online articles PubMed PubMed Citation Articles by Patel, S. Articles by Barkovich, A. J. American Journal of Neuroradiology 23:1074-1087, August 2002 American Society of Neuroradiology PEDIATRICS Analysis and Classification of Cerebellar Malformations Sandeep Patel a and A. James Barkovich a a From the Neuroradiology Section, University of California, San Francisco, San Francisco, CA Address reprint requests to A. James Barkovich, MD, Room L371, University of California, San Francisco, 505 Parnassus Avenue, San Francisco, CA 94143 Abstract TOP Abstract Introduction Methods Results Discussion Conclusion References BACKGROUND AND PURPOSE: Because of improved visualization of posterior fossa structures with MR imaging, cerebellar malformations

34. Birth Disorder Information Directory - CO-CZ with cerebellar vermis Aplasia (Joubert Syndrome with Bilateral Chorioretinal Crane Heise Syndrome (Cleft Lip/Palate, agenesis of Clavicles and Cervical http://www.bdid.com/defectco.htm

HOME Co-Cy COACH Syndrome See Cerebellar Vermis Hypo/Aplasia, Oligophrenia, Congenital Ataxia, Ocular Coloboma, and Hepatic Fibrosis (COACH) Syndrome Coarctation of (the) Aorta (CoA) List of Sites Coats' Disease (Congenital Retinal Telangiectasia, Exudative Retinitis, Leber Miliary Aneurysm) Coats disease Cobb Syndrome Syndromes associated with AVMs Cocaine Antenatal Infection See Fetal Cocaine Syndrome Related Books Cochin Jewish Disorder (Haim Munk Syndrome, Keratosis Palmoplantaris Periodontopathia) Keratosis palmoplantaris periodontopathia KERATOSIS PALMOPLANTARIS WITH PERIODONTOPATHIA AND ONYCHOGRYPOSIS Cockayne Syndrome List of Sites COD-MD Syndrome See Walker Warburg Syndrome CODAS Syndrome (Cerebrooculodentoauriculoskeletal Syndrome) Cerebro oculo dento auriculo skeletal syndrome CODAS SYNDROME Coffin Syndrome (Arthritis Short Stature Deafness) Coffin syndrome Coffin-Lowry Syndrome List of Sites Coffin Siris Syndrome (Fifth Digit Syndrome) Coffin siris syndrome FIFTH DIGIT SYNDROME COFS Syndrome See Cerebrooculofacioskeletal (COFS) Syndrome Cohen Hayden Syndrome (Proteus-Like Syndrome with Mental Retardation and Eye Defects) Cohen hayden syndrome Cohen Lockood Wyborney Syndrome (Blepharophimosis Ptosis Syndactyly Mental Retardation) blepharophimosis ptosis syndactyly mental retardation Cohen Syndrome List of Sites Colavita Kozlowski Syndrome (Short Limb Dwarf, Lethal Colavita Kozlowski Type)

35. The Turkish Journal Of Pediatrics Cranial computed tomography (CT) showed agenesis of cerebellar vermis and corpus cerebellar vermis and corpus callosum agenesis were present (Fig. 7). http://tjp.dergisi.org/text.php3?id=204

36. Clinical Dysmorphology - UserLogin Histology identified the cerebellar vermis, opening out into the cyst. Post mortem examination in one revealed cerebellar agenesis and enlargement of http://www.clindysmorphol.com/pt/re/mcd/fulltext.00019605-200201000-00003.htm

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37. Clinical Dysmorphology - UserLogin magna in continuity with the 4th ventricle and an absent cerebellar vermis . agenesis of the corpus callosum has been reported in a previous patient http://www.clindysmorphol.com/pt/re/mcd/fulltext.00019605-200504000-00010.htm

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38. CCM Cerebellar Vermis Hypoplasia Research cerebellar vermis hypoplasia occurs with a wide variety of genetic disorders, agenesis of the corpus callosum, cutaneous hypopigmentation, cataracts, http://www.ccm.ucsd.edu/CVH.htm

The Center for Cerebellar Malformations CCM Home Contact us Cerebellar Vermis Hypoplasia General Information Cerebellar vermis hypoplasia occurs with a wide variety of genetic disorders, including nonprogressive autosomal recessive disorders (see table below) as well as in sporadic cases. Syndromes with cerebellar vermis hypoplasia Joubert Absent cerebellar vermis, molar tooth abnormality, ataxia, oculomotor apraxia, mental retardation Meckel Polycystic kidney disease, encephalocele, hepatic ductal dysplasia, polydactyly Vici Agenesis of the corpus callosum, cutaneous hypopigmentation, cataracts, cleft lip, combined immunodeficiency Bardet-Biedl mental retardation, pigmentary retinopathy, polydactyly, obesity, hypogenitalism, diabetes Congenital blindness, autosomal recessive Leber congenital amaurosis Smith- Magenis brachycephaly, midface hypoplasia, prognathism, hoarse voice, and speech delay, hearing loss, psychomotor and growth retardation, and behavioral problems, Chr. 17 deletions Cogan Oculomotor apraxia, ataxia

39. CCM Dandy Walker Malformation The core criteria of DandyWalker malformation are 1. cerebellar vermis A significant proportion (10-17%) display agenesis or dysgenesis of the corpus http://www.ccm.ucsd.edu/DW.htm

The Center for Cerebellar Malformations CCM Home Contact us Dandy Walker Malformation General Information The Dandy-Walker malformation was first described in 1887 by Sutton (Sutton, 1887) and was further characterized by Dandy and Blackfan in 1914 and Taggart and Walker in 1942 (Dandy and Blackfan, 1914; Taggart and Walker, 1942) . The key components of this malformation include hypoplasia of the cerebellar vermis and cystic dilatation of the 4th ventricle. The 4th ventricle communicates with a retrocerebellar cyst that may cause enlargement of the posterior fossa and elevation of the tentorium, seen on imaging studies as elevation of the torcula or confluence of the sinuses. A third, variable component of DWM is communicating hydrocephalus with enlarged lateral ventricles. Presentation of DWM can take many forms. It often presents with macrocephaly in the neonatal period, and infants may come to medical attention because of hydrocephalus, developmental delay, or ataxia. It may be identified on prenatal ultrasound, where prenatal counseling takes a critical role. It may be present in asymptomatic individuals undergoing brain imaging for an unrelated reason.

40. TheFetus.net - PHACES Syndrome With Cerebellar Hemihypoplasia-Luís Flávio Gonà or partial agenesis of the cerebellar vermis and elevated tentorium. followed by hypoplasia or agenesis of the cerebellum, cerebellar vermis, http://www.thefetus.net/page.php?id=433

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