Extractions: 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
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
Extractions: This survey of medical eponyms and the persons behind them is meant as a general interest site only. No information found here must under any circumstances be used for medical purposes, diagnostically, therapeutically or otherwise. If you, or anybody close to you, is affected, or believe to be affected, by any condition mentioned here: see a doctor. 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.
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
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.
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
Extractions: 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
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
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
Extractions: 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. Information on the following diseases can be found in the Related Disorders section of this report: 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.
Extractions: 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. 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.
Extractions: 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. Information on the following diseases can be found in the Related Disorders section of this report: 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.
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
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
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
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
SEMERC: Information Services: Glossary: J necessary. A feature of some multiple abnormality syndromes. JoubertSyndrome or Familial cerebellar vermis agenesis. Features include http://semerc.gl.cs.gigastream.com/information_services/a_z/j.asp
Extractions: Search our online shop A B C D ... Z 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) Yellowness of the skin and tissues, best seen in the eyes by natural light. Due to an excess of bile pigment in the tissues. 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. 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.
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
Extractions: 11q-deletie www.erfocentrum.nl/zena/jacob.php - 14 aug 2003 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 Voorlichting van: Stichting Erfocentrum Soort: Publieksinformatie Extra info: Synoniemen:
C From Linkspider UK Health Directory Processing Disorders; Central Pontine Myelinolysis; Cerebellar Diseases;cerebellar vermis agenesis; Cerebral Abscess; Cerebral Edema; http://linkspider.co.uk/Health/ConditionsandDiseases/C/
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C Conditions And Diseases Health English Cerebellar Diseases English Health Conditions and Diseases Neurological DisordersBrain Diseases Cerebellar ? cerebellar vermis agenesis English Health http://www.interactiva.org/Dir/I/English/Health/Conditions_and_Diseases/C/
