21. :: Ez2Find :: C Celiac Disease (36) Central Auditory Processing Disorders (23) Central Pontine Myelinolysis(3) Cerebellar Diseases (3) cerebellar vermis agenesis (5) Cerebral http://ez2find.com/cgi-bin/directory/meta/search.pl/Health/Conditions_and_Diseas

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22. Index - A To Z Âå¾Ç¹Ï®ÑÀ] - °ê»Ú«p¥Í°·±d¶é°Ï - 24Drs.com Cerebellar Hypoplasia shc Cerebellar Syndrome nord cerebellar vermis agenesis,Hypernea, EpisodicEye Moves-Ataxia-Retardation nord Cerebellar Vermis http://www.24drs.com/Health_Guide/health.asp?who=4115.21650

23. SearchBug Directory: Health: Conditions_and_Diseases: C Celiac Disease (41) Central Auditory Processing Disorders (23) Central Pontine Myelinolysis(3) Cerebellar Diseases (7) cerebellar vermis agenesis (5) Cerebral http://www.searchbug.com/directory.aspx/Health/Conditions_and_Diseases/C/

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24. J Med Genet -- BOLTSHAUSER Et Al. 36 (11): 870 Their case 1 had, in addition to mental retardation, choreoretinal colobomas,cerebellar vermis agenesis, and abnormal breathing, agenesis of the corpus http://jmg.bmjjournals.com/cgi/content/full/36/11/870

HOME HELP FEEDBACK SUBSCRIPTIONS ... Email this link to a friend eLetters: Submit a response to this article Similar articles found in: J Med Genet PubMed PubMed Citation Search PubMed for articles by: BOLTSHAUSER, E. J BEEMER, F A Alert me when: new articles cite this article Download to Citation Manager Collections under which this article appears: Genetics J Med Genet 870-871 ( November ) Letters to the editor Coexistence of Gaucher disease type 1 and Joubert syndrome Reply to letter Coexistence of Gaucher disease type 1 and Joubert syndrome E DITOR Van Royen-Kerkhof et al reported two boys with Gaucher disease type 1 and Joubert syndrome (JS). Their case 1 had, in addition to mental retardation, choreoretinal colobomas, cerebellar vermis agenesis, and abnormal breathing, agenesis of the corpus callosum, hydrocephalus (no further details given), and generalised seizures. Their case 2 had prenatal hydrocephalus and "fulfilled the diagnostic criteria for JS". Information about brain anatomy and retinal findings in case 2 is lacking.

25. Delv.co.uk: Central Auditory Processing Disorder Websites In The UK 36) central auditory processing disorders @ (23) Central Pontine Myelinolysis @ (3)Cerebellar Diseases @ (3) cerebellar vermis agenesis @ (5) Cerebral Abscess http://www.delv.co.uk/kqry/central auditory processing disorder

BOOKMARK DELV.CO.UK MAKE DELV.CO.UK MY HOME PAGE Results: 1 - 25 - UK Search for: central auditory processing disorder document.cookie="metasearch=1849718794.20480.0000"; The Listening Program Auditory Stimulation Method Music for Your Brain sponsored by http://www.thelisteningprogram.com/ (MetaSearch Picks) Help Kids Listen Better. Fun game program, easy to use. Kids love it. sponsored by http://BrainTrain.com/ (MetaSearch Picks) CAPD Software for Your PC Complete Auditory Therapy Package. Backed by Years of CAPD Research. sponsored by http://www.SonidoInc.com/ (MetaSearch Picks) Auditory Processing Proven med-free treatment for aud. processing deficit. MD-monitored. sponsored by http://www.crossroadsinstitute.org/ (MetaSearch Picks) Software for Autism sponsored by http://www.UltimateLearning.net/ (MetaSearch Picks) C assoicated to Health Internet Websites ... Canavan Disease Cancer Candida Cardiomyopathy Carpal Tunnel Syndrome Cat-Scratch Disease Cataracts Causalgia Celiac Disease Central Auditory Processing Disorders Central Pontine Myelinolysis Cerebellar Diseases Cerebellar Vermis Agenesis Cerebral Abscess Cerebral Edema Cerebral Gigantism ... http://www.linkspider.org.uk/index.cgi/Health/ConditionsandDisease ...

26. C In Health > Conditions And Diseases Processing Disorders@ (23); Central Pontine Myelinolysis@ (3); CerebellarDiseases@ (3); cerebellar vermis agenesis@ (5); Cerebral Abscess http://ilectric.com/glance/Health/Conditions_and_Diseases/C/

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27. Cerebellar Agenesis cerebellar agenesis. This response submitted by Sharon Gretz on 4/8/96. Author's Email Hi, I would love to correspond with you. My four year old son has cerebellar agenesis. Some of the info from NORD on cerebellar issues is wrong! cerebellar. agenesis. Also, what about the cerebellar vermis (connecting tissue between the two. cerebellar hemispheres http://neuro-www.mgh.harvard.edu/neurowebforum/ChildNeurologyArticles/cerebellar

cerebellar agenesis This response submitted by Sharon Gretz on 4/8/96. Author's Email: Hi, I would love to correspond with you. My four year old son has cerebellar agenesis. Some of the info from NORD on cerebellar issues is wrong! The agenesis, if it is an isolated problem, and not part of a syndrome, etc. is likely not genetic. It is more likely caused by an event in pregnancy, for instance viral attack, etc. Usually, if some of the cerebellum is present it is called cerebellar hypoplasia (underdeveloped). It is the near or total absence of cerebellum that is called cerebellar agenesis. Also, what about the cerebellar vermis (connecting tissue between the two cerebellar hemispheres)? Please email me as I would love to talk to you about this and learn more about your daughter. You can reach me at: sharong@nauticom.net Next Article Return to Main Article Article complete. Click HERE to return to the Neurology Web-Forum Menu.

28. Walker-Warburg Syndrome,Cerebroocular Dysgenesis,Cerebroocular Dysplasia-Muscula lissencephaly and cerebellar dysgenesis, particularly vermian, hypoplasia or agenesis. callosum,fused hemispheres, hypoplasia of the cerebellar vermis with or http://www.icomm.ca/geneinfo/walkerwar.htm

Walker-Warburg Syndrome,Cerebroocular Dysgenesis,Cerebroocular Dysplasia-Muscular Dystrophy Syndrome,Chemke Syndrome,COD,COD-MD Syndrome,HARD +/-E Syndrome,HARD Syndrome,Hydrocephalus Agyria and Retinal Dysplasia,Pagon Syndrome,Warburg Syndrome,Walker-Warburg Syndrome,Cerebroocular Dysgenesis,Cerebroocular Dysplasia-Muscular Dystrophy Syndrome,Chemke Syndrome,COD,COD-MD Syndrome,HARD +/-E Syndrome,HARD Syndrome,Hydrocephalus Agyria and Retinal Dysplasia,Pagon Syndrome,Warburg Syndrome For Information on Workshops and Seminars for Special Needs Children click here The GAPS INDEX to Information on the Internet about Genetic Disorders and Birth Defects Genetic Information and Patient Services, Inc. (GAPS) HOME DISORDERS GLOSSARY Walker-Warburg Syndrome also known as: Cerebroocular Dysgenesis Cerebroocular Dysplasia-Muscular Dystrophy Syndrome Chemke Syndrome COD COD-MD Syndrome HARD +/-E Syndrome HARD Syndrome Hydrocephalus, Agyria, and Retinal Dysplasia Pagon Syndrome Warburg Syndrome (as defined by the National Organization for Rare Disorders Walker-Warburg Syndrome is a rare disorder that is inherited as an autosomal recessive genetic trait. Walker-Warburg Syndrome is also known as HARD +/-E Syndrome, which is an acronym for (H)ydrocephalus, (A)gyria, (R)etinal (D)ysplasia and, in some cases, (E)ncephalocele.

29. Cerebellar Agenesis of the following disorders can be similar to those of cerebellar agenesis. is bornwith a malformation of a portion of the cerebellum called the vermis. http://www.bchealthguide.org/kbase/nord/nord919.htm

document.write(''); var hwPrint=1; var hwDocHWID="nord919"; var hwDocTitle="Cerebellar Agenesis"; var hwRank="1"; var hwSectionHWID="nord919"; var hwSectionTitle=""; var hwSource="cn6.0"; var hwProdCfgSerNo="wsh_html_031_s"; var hwDocType="NORD"; National Organization for Rare Disorders, Inc. Cerebellar Agenesis Important It is possible that the main title of the report 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 Aplasia Cerebellar Hemiagenesis Cerebellar Hypoplasia Disorder Subdivisions None Related Disorders List Information on the following diseases can be found in the Related Disorders section of this report: Arnold-Chiari Malformation Joubert Syndrome General Discussion Cerebellar agenesis is a rare disorder thought to be inherited as an autosomal recessive trait. Infants with this disorder are born with partial formation or total absence of the portion of the brain that is located at the base of the skull and known as the cerebellum. Infants with partial formation of the cerebellum may have few or no symptoms of the disorder. When total absence of the cerebellum is present, an affected infant may experience low muscle tone, uncontrollable quivering or movements, involuntary movement of the eyes, and/or an inability to coordinate muscle movements. Symptoms Infants with cerebellar agenesis may have partial or incomplete formation of the portion of the brain that is located at the base of the skull (cerebellum). The cerebellum is the portion of the brain that is concerned with coordinating voluntary muscle movement such as walking and equilibrium. When partial formation is present the patient may have few or no symptoms of the disorder.

30. Cerebellar Disorders is partial or complete agenesis of the cerebellar vermis, cystic formation of the posterior Walker syndrome and agenesis of the cerebellar vermis diagnostic problems and genetic http://www.tchain.com/otoneurology/disorders/central/cerebellar.htm

Cerebellar Disorders Timothy C. Hain, MD Return to Education Index Last update: 6/26/01. 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. Dandy Walker irritability, vomiting, convulsions, and/or cerebellar dysfunction signs such as ataxia neural anomalies include "agenesis of the posterior cerebellar vermis, agenesis of the corpus http://www.cvtcollege.org/~lpenrose/dw.html

DANDY WALKER SYNDROME BY: AMBER TALLEY RT(R) Abstract Dandy Walker Syndrome is known by several different names. It is the result of abnormal development of the cerebellum and fourth ventricle and is often associated with hydrocephalus. It occurs 1 in 25,000 babies and females are affected more often. The disorder was first described in 1954, and was named Dandy Walker Syndrome in 1954 .There are certain characteristics associated with it. Specific symptoms may appear early in infancy or in older children. The prognosis is only moderately favorable. There are specific imaging findings of Dandy Walker Syndrome. Key Words Dandy Walker Syndrome, cerebellum, fourth ventricle, hydrocephalus, ultrasound Introduction Dandy Walker is known by several names such as Dandy Walker Syndrome, Dandy Walker Malformation, Dandy Walker Cyst, and Dandy Walker Variant (1). "The Dandy Walker Syndrome is a spectrum of disorders resulting from abnormal development of the cerebellum with associated maldevelopment of the fourth ventricle (2)." Body It occurs 1 in 25,000 babies and more often in females. It accounts for approximately 1-4% of hydrocephalus cases (3). In 1914, the disorder was first described by Dandy and Blackfan (4). In 1954, Benda designated the disorder as Dandy Walker Syndrome and also reported a familial occurrence (5). The cause is thought to from "abnormal embryogenesis of the roof of the fourth ventricle before the sixth or seventh gestational week (6).

32. Birth Disorder Information Directory - CO-CZ of Sites; Chorioretinal with cerebellar vermis Aplasia (Joubert of Sites. Cornealcerebellar Syndrome (Der Syndrome. Corpus Callosum agenesis of Blepharophimosis 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)

33. Cerebellar Disorders to be confused with Dandy s syndrome, indicating bilateral vestibular loss), thereis partial or complete agenesis of the cerebellar vermis, cystic formation 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.

34. Dandy-Walker Malformation, Agenesis Of Corpus Callosum, And Gray Discussion Callosal agenesis and heterotopias are discusssed elsewhere (unknowns 39 foramina with resultant variable hypoplasia of the cerebellar vermis and a http://www.med.uc.edu/neurorad/webpage/dda.html

Dandy-Walker Malformation, Agenesis of Corpus Callosum, and Gray Matter Heterotopia Findings: The corpus callosum and cerebellar vermis are absent. The lateral ventricles have a parallel configuration and are lined with scattered nodules of tissue that are isointense to gray matter. Discussion: Callosal agenesis and heterotopias are discusssed elsewhere (unknowns #39, #85). Dandy Walker complex is thought to be caused by developmental atresia of the fourth ventricular foramina with resultant variable hypoplasia of the cerebellar vermis and a posterior fossa cyst which communicates with the fourth ventricle. The malformation is not inherited, but has numerous associations as follows: -macrocephaly, developmental delay, other non CNS anomalies -aqueductal stenosis, Aicardi syndrome, holoprosencephaly -occipital encephalocele -hydrocephalus (80%), migrational anomalies (5-10%) -Klippel-Feil, callosal agenesis (30%), Ellis van Creveld, others The classic Dandy Walker malformation is associated with torcular-lambdoid inversion, but this is not specific. Dandy Walker variants are more common, are characterized by a more benign course with variable hypoplasia of the vermis, and are not associated with T-L inversion BACK TO UNKNOWNS BACK TO CATEGORIES HOME

35. Dandy Walker Malformation D. Blackfan 18831941, American physician), consisting of a triad of abnormalities;complete or partial agenesis of the cerebellar vermis, cystic dilatation of http://www.amershamhealth.com/medcyclopaedia/medical/Volume VII/DANDY WALKER MA

Amershamhealth.com Search for: Type a word or a phrase. All forms of the word are searchable. Browse entry words starting with: A B C D ... Other characters Dandy walker malformation, In classical Dandy-Walker malformation hydrocephalus is considered a complication rather than part of the malformation and though unusual at birth it is present in 75% of patients by 3 months of age and in 90% of patients at the time of diagnosis. The malformation occurs in 1 per 25,000-30,000 births. Walker Warburg syndrome , Dekaban syndrome, cerebro-oculo-muscular syndrome and vermian hypoplasia with colobomata and hepatic fibrosis.Those genetic syndromes in which vermian agenesis is an occasional feature include Meckel-Gruber, Mohr, orofacial digital syndrome type II, Coffin Siris syndrome Smith Lemli Opitz syndrome Ellis van Creveld syndrome Ruvalcaba Myhere Smith syndrome .Other non-Mendelian syndromes in which vermian agenesis may be a feature include Dandy-Walker cyst wi EP The Encyclopaedia of Medical Imaging Volume VII Dandy walker malformation, Fig. 1

36. Dysgenesis, Cerebellar total or subtotal agenesis. lateral aplasia. median aplasia. hypoplasia. Near totalaplasia of the cerebellar vermis, dysplasis and heterotopias of cerebellar http://www.amershamhealth.com/medcyclopaedia/medical/Volume VI 1/DYSGENESIS CERE

Amershamhealth.com Search for: Type a word or a phrase. All forms of the word are searchable. Browse entry words starting with: A B C D ... Other characters Dysgenesis, cerebellar, congenital abnormal formation of the cerebellum and manifested in different forms and degrees of severity: total or subtotal agenesis lateral aplasia median aplasia hypoplasia Near total aplasia of the cerebellar vermis, dysplasis and heterotopias of cerebellar nuclei, absence of pyramidal decussation, anomalies of the inferior olivary nuclei are found in Jouberts syndrome Rhombencephalosynapsis is characterized by absence of the cerebellar vermis and fusion of the cerebellar hemispheres. Lhermitte Duclos disease is a cerebellar dysplasia characterized by thickening of the cerebellar folia due to a cellular disorganization with hypertrophied granula cell neurons and axonal hypermyelination in the molecular layer (dysplastic gangliocytoma). GS The Encyclopaedia of Medical Imaging Volume VI:1 Contacts GE Healthcare Making Waves

37. Agenesis Of The Corpus Callosum - Eurorad - Clinical Case 945 - Resident The DandyWalker malformation consists of an enlarged posterior fossa with a highposition of the tentorium, hypo- or agenesis of the cerebellar vermis and a http://www.eurorad.org/case.cfm?uid=945

38. Joubert's Syndrome - Eurorad - Clinical Case 1071 - Resident change of the syndrome is agenesis of the Absence of the vermis results in a triangularshapedmid fossa, thick and elongated superior cerebellar peduncles, and http://www.eurorad.org/case.cfm?uid=1071

39. EMedicine - Dandy-Walker Malformation : Article Excerpt By: Lutfi Incesu, MD The condition is characterized by agenesis or hypoplasia of the cerebellar vermis,cystic dilatation of the fourth ventricle, and enlargement of the posterior http://www.emedicine.com/radio/byname/dandy-walker-malformation.htm

(advertisement) Excerpt from Dandy-Walker Malformation Synonyms, Key Words, and Related Terms: Dandy-Walker syndrome, Dandy-Walker cyst, Dandy-Walker deformity, Luschka-Magendie foramina atresia Please click here to view the full topic text: Dandy-Walker Malformation Background: Dandy-Walker malformation is a rare congenital malformation and involves the cerebellum and fourth ventricle. The condition is characterized by agenesis or hypoplasia of the cerebellar vermis, cystic dilatation of the fourth ventricle, and enlargement of the posterior fossa. A large number of concomitant problems may be present, but the syndrome exists whenever these 3 features are found. Approximately 70-90% of patients have hydrocephalus, which often develops postnatally. Dandy-Walker malformation may be associated with atresia of the foramen of Magendie and, possibly, the foramen of Luschka. Dandy-Walker malformation first was described by Dandy and Blackfan in 1914. Since the original description, additional studies have reported on the various morphologic features of the syndrome. Not until 1954 did Benda first emphasize that atresia of the cerebellar outlet foramina is not an essential feature of the condition and suggested the now widely accepted term Dandy-Walker malformation. Studies by D’Agostino in 1963 and Hart et al in 1972 further defined the characteristic triad of Dandy-Walker malformation as consisting of (1) complete or partial agenesis of the vermis, (2) cystic dilatation of the fourth ventricle, and (3) an enlarged posterior fossa with upward displacement of lateral sinuses, tentorium, and torcular herophili. The triad typically is found in association with supratentorial hydrocephalus, which should be considered a complication rather than part of the malformation complex.

40. TheFetus.net - PHACES Syndrome With Cerebellar Hemihypoplasia-Luís Flávio Gon� an estimated incidence of 1/30,000 births and is characterized by enlarged posteriorfossa, complete or partial agenesis of the cerebellar vermis and elevated http://www.thefetus.net/page.php?id=433

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