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         Cerebellar Vermis Agenesis:     more detail
  1. Defective development of the cerebellar vermis (partial agenesis) in a child: With 17 figures in the text (Norsk videnskaps-akademi i Oslo. Skrifter. I. Mat.-naturv. klasse, 1945) by Alf Brodal, 1945

1. Joubert Syndrome,Cerebellar Vermis Agenesis-Hypernea-Episodic Eye Moves-Ataxia-R
Joubert Syndrome,cerebellar vermis agenesisHypernea-Episodic Eye Moves-Ataxia-Retardation,CerebellarVermis Aplasia,Cerebellarparenchymal Disorder IV
http://www.icomm.ca/geneinfo/joubert.htm
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DISORDERS GLOSSARY Joubert Syndrome
also known as:
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 (as defined by the National Organization for Rare Disorders
Joubert Syndrome is a very rare neurological disorder involving a malformation of the area of the brain that controls balance and coordination. Generally motor activity is slowed (psychomotor retardation) and there are abnormal eye movements. Respiratory irregularities, including rapid panting, may occur during infancy. Find more information on the Internet with Select name of the disorder Joubert Syndrome Cerebellar Vermis Agenesis, Hypernea, Episodic-Eye Moves-Ataxia-Retardation

2. Joubert's Syndrome (www.whonamedit.com)
Synonyms Synonym familial cerebellar vermis agenesis. Associated persons Andermann Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye
http://www.whonamedit.com/synd.cfm/2702.html

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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).

3. Joubert Syndrome
View the Full Record. Syndrome, Joubert syndrome. Synonyms, JoubertBoltshausersyndrome. 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.

4. Agenesis Of Cerebellar Vermis
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. He has agenesis of the vermis, and agenesis of the left cerebellar hemisphere and hypoplasia
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
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5. NORD - National Organization For Rare Disorders, Inc.
cerebellar vermis agenesis, Hypernea, EpisodicEye Moves-Ataxia-Retardation. Cerebellar Vermis Aplasia Cystic Kidneys-Joubert Syndrome. Vermis Aplasia. Vermis Cerebellar Agenesis
http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Joubert Syndr

6. Index
Cerebellar Hypoplasia Nord Cerebellar Syndrome Nord cerebellar vermis agenesis,Hypernea, EpisodicEye Moves-Ataxia-Retardation Nord Cerebellar Vermis
http://my.webmd.com/hw/index/index-all-C.asp
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7. Joubert Syndrome
Synonyms. cerebellar vermis agenesis, Hypernea, EpisodicEye Moves-Ataxia-Retardation;Cerebellar Vermis Aplasia; Vermis Cerebellar Agenesis. Disorder Subdivisions.
http://www.bchealthguide.org/kbase/nord/nord20.htm
document.write(''); var hwPrint=1; var hwDocHWID="nord20"; var hwDocTitle="Joubert Syndrome"; var hwRank="1"; var hwSectionHWID="nord20"; var hwSectionTitle=""; var hwSource="cn6.0"; var hwProdCfgSerNo="wsh_html_031_s"; var hwDocType="NORD";
National Organization for Rare Disorders, Inc.
Joubert Syndrome
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 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
Disorder Subdivisions
  • None
Related Disorders List
Information on the following diseases can be found in the Related Disorders section of this report:
  • Dandy Walker Syndrome Leber's Congenital Amaurosis Hydrocephalus
General Discussion
Joubert Syndrome is a very rare neurological disorder involving a malformation of the area of the brain that controls balance and coordination. Generally motor activity is slowed (psychomotor retardation) and there are abnormal eye movements. Respiratory irregularities, including rapid panting, may occur during infancy.

8. Joubert Syndrome - Quest Diagnostics Patient Health Library
cerebellar vermis agenesis, Hypernea, EpisodicEye Moves-Ataxia-Retardation. Cerebellar Vermis Aplasia Cystic Kidneys-Joubert Syndrome. Vermis Aplasia. Vermis Cerebellar Agenesis
http://www.questdiagnostics.com/kbase/nord/nord20.htm
document.write(''); var hwPrint=1; var hwDocHWID="nord20"; var hwDocTitle="Joubert Syndrome"; var hwRank="1"; var hwSectionHWID="nord20"; var hwSectionTitle=""; var hwSource="us6.0"; var hwProdCfgSerNo="wsh_html_059_c"; var hwDocType="NORD";
National Organization for Rare Disorders, Inc.
Joubert Syndrome
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 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
Disorder Subdivisions
  • None
General Discussion
Joubert Syndrome is a very rare neurological disorder involving a malformation of the area of the brain that controls balance and coordination. Generally motor activity is slowed (psychomotor retardation) and there are abnormal eye movements. Respiratory irregularities, including rapid panting, may occur during infancy.

9. Joubert Syndrome
cerebellar vermis agenesis, Hypernea, EpisodicEye Moves-Ataxia-Retardation. Cerebellar Vermis Aplasia Cystic Kidneys-Joubert Syndrome. Vermis Aplasia. Vermis Cerebellar Agenesis
http://hw.healthdialog.com/kbase/nord/nord20.htm
document.write(''); var hwPrint=1; var hwDocHWID="nord20"; var hwDocTitle="Joubert Syndrome"; var hwRank="1"; var hwSectionHWID="nord20"; var hwSectionTitle=""; var hwSource="us6.0"; var hwProdCfgSerNo="wsh_html_003_s"; var hwDocType="NORD";
National Organization for Rare Disorders, Inc.
Joubert Syndrome
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 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
Disorder Subdivisions
  • None
Related Disorders List
Information on the following diseases can be found in the Related Disorders section of this report:
  • Dandy Walker Syndrome Leber's Congenital Amaurosis Hydrocephalus
General Discussion
Joubert Syndrome is a very rare neurological disorder involving a malformation of the area of the brain that controls balance and coordination. Generally motor activity is slowed (psychomotor retardation) and there are abnormal eye movements. Respiratory irregularities, including rapid panting, may occur during infancy.

10. 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
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11. 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

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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)

12. Www.icondata.com/health/pedbase/files/AGENESI2.HTM
Syndroom van Joubert Synoniemen cerebellar vermis agenesis Hypernea EpisodicEye Moves-Ataxia-RetardationCerebellar Vermis Aplasia Cerebellarparenchymal Disorder IV
http://www.icondata.com/health/pedbase/files/AGENESI2.HTM

13. 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
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14. JOUBERT SYNDROME
Name. JOUBERT SYNDROME Synonyms. cerebellar vermis agenesis plus anotheranomalies (codes). cerebellar vermis aplasia plus other anomalies (codes).
http://malattierare.pediatria.unipd.it/pubblicaMR/mr_dx_ing.asp?mr=191

15. ScienceDaily -- Browse Topics: Health/Conditions_and_Diseases/C
Myelinolysis@ (3); Cerebellar Diseases@ (3); cerebellar vermis agenesis@(5); Cerebral Abscess@ (3); Cerebral Edema@ (3); Cerebral Gigantism
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16. SEMERC: Information Services: Glossary: J
necessary. A feature of some multiple abnormality syndromes. JoubertSyndrome or Familial cerebellar vermis agenesis. Features include
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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.

17. Erfocentrum | Voorlichting | Pagina 22 | Arts En Apotheker
Extra info Synoniemen cerebellar vermis agenesis -Hypernea -Episodic-Eye Moves-Ataxia-Retardation-Cerebellar Vermis Aplasia -Cerebellarparenchymal Disorder
http://www.artsenapotheker.nl/c5890/p22
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Voorlichting van: Stichting Erfocentrum Soort: Publieksinformatie Extra info: Het syndroom van Jervell-Lange-Nielsen is een zeldzame vorm van het Lange QT-tijd syndroom (LQTS), dat gepaard gaat met aangeboren doofheid. www.erfocentrum.nl/zena/jerve.php - 14 aug 2003
Syndroom van Joubert
Voorlichting van: Stichting Erfocentrum Soort: Publieksinformatie Extra info: 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

18. ORPHANET® : Base De Données Sur Les Maladies Rares Et Les Médicaments Orpheli
hypoplasia Cerebellar hypoplasia endosteal sclerosis Cerebellar hypoplasia tapetoretinaldegeneration cerebellar vermis agenesis Cerebelloparenchymal autosomal
http://www.orpha.net/Pat/GBC.html
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19. C From Linkspider UK Health Directory
Processing Disorders; Central Pontine Myelinolysis; Cerebellar Diseases;cerebellar vermis agenesis; Cerebral Abscess; Cerebral Edema;
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Cerebellar Diseases English Health Conditions and Diseases Neurological DisordersBrain Diseases Cerebellar ? cerebellar vermis agenesis English Health
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