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         Marinesco-sjogren Syndrome:     more detail

21. Aniridia Cerebellar Ataxia Mental Deficiency
marinescosjogren syndrome is a rare inherited disorder that is characterized by impaired coordination of voluntary movement due to underdevelopment (hypoplasia
http://www.bchealthguide.org/kbase/nord/nord1045.htm
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National Organization for Rare Disorders, Inc.
Aniridia Cerebellar Ataxia Mental Deficiency
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
  • Gillespie Syndrome Aniridia-Cerebellar Ataxia-Mental Retardation Aniridia, Partial-Cerebellar Ataxia-Mental Retardation Aniridia, Partial-Cerebellar Ataxia-Oligophrenia
Disorder Subdivisions
  • None
Related Disorders List
Information on the following diseases can be found in the Related Disorders section of this report:
  • Marinesco-Sjogren Syndrome Aniridia, Type II
General Discussion
Aniridia-Cerebellar Ataxia-Mental Deficiency, also known as Gillespie Syndrome, is an extremely rare inherited disorder that is characterized by partial absence (aplasia) of the colored portion (iris) of the eye (Partial Aniridia), impaired coordination of voluntary movements due to underdevelopment (hypoplasia) of the brain's cerebellum (cerebellar ataxia), and mental retardation. Many affected individuals also exhibit a delay in the acquisition of skills requiring coordination of muscular and mental activity (psychomotor retardation). Aniridia-Cerebellar Ataxia-Mental Deficiency is believed to be inherited as an autosomal recessive genetic trait.

22. Genetic, Metabolic And Mitochondrial Disorders
s. Neurotransmitter Diseases. Prader-Willi Syndrome. Rett Syndrome....... LandauKleffner Syndrome. marinesco-sjogren syndrome. Mitochondrial Disease
http://www.apraxia-kids.org/links/linksgenetic.html
Search Site Map Home
Genetic, Metabolic and Mitochondrial Disorders
This page includes links to information about genetic, metabolic or mitochondrial disorders which are known to affect the intelligibility of speech and/or speech development.
Angelman Syndrome
Cohen Syndrome
CDGS - Congenital Disorders of Glycosylation

"abnormal synthesis of sugar groups that are parts of glycoproteins ("sugarproteins"). The current identified types of CDG are Type 1a, 1b, 1c, 1d, 1e and IIa. Many children with CDG have serious life threatening medical problems during their infancy. Children and adults with CDG type 1a have varying degrees of disabilities including cognitive impairment, speech difficulties, poor balance and motor skills, some walk with support, many are in wheelchairs."-CDG Family Network
Comprehensive Speech and Language Treatment for Infants, Toddlers, and Children with Down Syndrome

23. :: Ez2Find :: Spinocerebellar Degenerations
marinescosjogren syndrome - Site Info - Translate - Open New Window Information and a support group for families affected with this syndrome, a rare
http://ez2find.com/cgi-bin/directory/meta/search.pl/Health/Conditions_and_Diseas
Guide : Spinocerebellar Degenerations Global Metasearch
Any Language English Afrikaans Arabic Bahasa Melayu Belarusian Bulgarian Catala Chinese Simplified Chinese Traditional Cymraeg Czech Dansk Deutsch Eesti Espanol Euskara Faroese Francais Frysk Galego Greek Hebrew Hrvatski Indonesia Islenska Italiano Japanese Korean Latvian Lietuviu Lingua Latina Magyar Netherlands Norsk Polska Portugues Romana Russian Shqip Slovensko Slovensky Srpski Suomi Svenska Thai Turkce Ukrainian Vietnamese Mode
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Guides Spinocerebellar Degenerations
ez2Find Home Directory Health Conditions and Diseases ... Spinal Cord : Spinocerebellar Degenerations Ataxia Friedreich's Ataxia Machado-Joseph Olivopontocerebellar Atrophy
Web Sites Last update: 11:46 PT, Wednesday, October 31, 2001

24. :: Ez2Find :: M
4) Malnutrition (8) Malta Fever (11) Mannosidosis (2) Marburg (4) Marfan Syndrome (37) MarieSainton Disease (4) marinesco-sjogren syndrome (5) Master s
http://ez2find.com/cgi-bin/directory/meta/search.pl/Health/Conditions_and_Diseas
Guide : M Global Metasearch
Any Language English Afrikaans Arabic Bahasa Melayu Belarusian Bulgarian Catala Chinese Simplified Chinese Traditional Cymraeg Czech Dansk Deutsch Eesti Espanol Euskara Faroese Francais Frysk Galego Greek Hebrew Hrvatski Indonesia Islenska Italiano Japanese Korean Latvian Lietuviu Lingua Latina Magyar Netherlands Norsk Polska Portugues Romana Russian Shqip Slovensko Slovensky Srpski Suomi Svenska Thai Turkce Ukrainian Vietnamese Mode
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ez2Find Home Directory Health Conditions and Diseases : M
A B C D ... Myotonic Dystrophy Last update: 14:29 PT, Thursday, March 11, 2004 Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor
Portions powered by ez2find.com

25. Health Library -
Marinesco Sjogren Syndrome. None. General Discussion. marinescosjogren syndrome is a rare disorder that is inherited through autosomal recessive genes.
http://hvlib.integris-health.com/Library/HealthGuide/IllnessConditions/topic.asp

26. EnableNet - Enablenet.browse.browse
Dis Multiple Disabilities marinescosjogren syndrome marinesco-sjogren syndrome Matching Resources. Records 1-1 of 1
http://www.enable.net.au/index.cfm?fuseaction=enablenet.browse.browse&catid=2819

27. HUM-MOLGEN DIAGnostics/Clinical Research
HUMMOLGEN DIAGnostics/Clinical Research. 9/10/96. marinesco-sjogren syndrome/PT request. dear sir. our daughter of 3,5 has a form of
http://www.hum-molgen.de/clinical/91096-1.html
HUM-MOLGEN DIAGnostics/Clinical Research marinesco-sjogren syndrome/PT request
dear sir our daughter of 3,5 has a form of mss we want to know more about this syndrome because in Holland its very rare can you please give us somre more information in advance , many thanks Apparent patient location: Holland PLEASE REPLY DIRECTLY TO HUMAN MOLECULAR GENETICS NETWORK ( gambacorti@icil64.cilea.it

28. HUM-MOLGEN Archive: DIAG: 5 Messages (1 PT.REQ.)
Research ***** This DIAG message contains 5 submessage(s) 1) marinescosjogren syndrome/PT request 2
http://www.hum-molgen.de/mail-archive/1996-Oct/msg00006.html
home genetic news bioinformatics biotechnology ... register for news alert (free) Carlo Gambacorti: DIAG: 5 messages (1 PT.REQ.) archive of HUM-MOLGEN mails
Author Prev
Author Next Thread Prev ...
HUM-MOLGEN@NIC.SURFNET.NL

Subject : DIAG: 5 messages (1 PT.REQ.)
From GAMBACORTI@ICIL64.CILEA.IT
Date : Fri, 11 Oct 1996 18:58:19 +0000
Date-warning: Date header was inserted by ICIL64.CILEA.IT

29. MAGIC FOUNDATION
marfan.org/. marinescosjogren syndrome (MSS) Website http//www.marinesco-sjogren.org/. The Noonan Syndrome Support Group Inc. PO
http://www.magicfoundation.org/resources/support.htm
Support Groups
Aarskogg Syndrome
Aarskogg Syndrome Parent Support Group
62 Robin Hill Ln, Levittown, PA 19055-1411
Contact: Shannon Caranci, (215) 943-7131
Achondroplasia
Little People of America
P.O. Box 9897
Washington, DC 20016
Arthrogryposis Multiplex Congenita
AVENUES, PO Box 5192 Sonora, CA 95370 CHARGE Syndrome Charge Syndrome Foundation 2004 Parkade Blvd Columbia, MO 65202-3121 Website: http://www.geocities.com/Heartland/1220/ Cockayne Syndrome PO Box 552 Stanleytown, VA 24168 Contact: Theresa Wall, (703) 629-2369 Coffin-Lowry Syndrome c/o Mary Hoffman 3045 255th Avenue S.E. Issaquah, WA 98029 Website: http://clsfoundation.tripod.com Email: CLSFoundation@yahoo.com Coffin-Siris Syndrome Support Group 1524 Marshall St. Antioch, CA 94509 Contact: Juanita Garrison Website: http://members.aol.com/CoffinSiri/default.htm Ellis van-Creveld Syndrome Support Group 540 S.Forest St,4-203

30. ScienceDaily -- Browse Topics: Health/Conditions_and_Diseases/M
Mannosidosis@ (2); Marburg@ (4); Marfan Syndrome@ (38); MarieSainton Disease@ (4); marinesco-sjogren syndrome@ (5); Master s Disease@ (4
http://www.sciencedaily.com/directory/Health/Conditions_and_Diseases/M
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31. MUMS List Of Disorders - M
7); Marfan Syndrome (12) *; Marfan Syndrome Beals Syndrome (2) *; marinescosjogren syndrome (1) www.marinesco-sjogren.org; Marshall
http://www.netnet.net/mums/mum_m.htm
Return to MUMS Home Page
MUMS:
List of Disorders
M
Number in parentheses indicates number of matches.
indicates there is a support group which covers that diagnosis.
  • MELAS Mitochondrial Encephalopathy Lactic Acidosis Syndrome (7) *
  • Macrocephaly (large head) (29) http://www.macrocephaly-cmtc.com/
  • Macrodactyly (Large toes or fingers) (2)
  • Macroglossia (6)
  • Macrosomia (abnormally large body) (2)
  • Macular Degeneration (4) *
  • Macular Degeneration (Infantile) *
  • Male Pseudohermaphroditism (2) *
  • Malignant Hyperthermia (12) *
  • Malrotation of the Intestines (31)
  • Mandibuloacral Dysplasia(Craniomandibular Dermatodysostis) (3)
  • Manic Depression, Bipolar (64) *
  • Manic Depressive Schizophrenia (19) *
  • Mannosidosis (Glycogen Storage) (4)**
  • Maple Syrup Urine Disease (7) *
  • Marcus Gunn Phenomenon (Jaw Winking) (3)
  • Marden-Walker Syndrome (7)
  • Marfan Syndrome (12) *
  • Marinesco-Sjogren Syndrome (1) www.marinesco-sjogren.org
  • Marshall-Smith Syndrome (1)
  • Mast Cell Disease (Urticaria Pigmentosa) (9)
  • Mastocytosis (Urticaria Pigmentosa) (9) www.mastokids.org

32. Diagnosis - Hair Defects Table
marinescosjogren syndrome, Menkes syndrome, Kinky hair syndrome, Steely hair disease (Copper transport disease), 309400. Mucopolysaccharidosis, (Various), List.
http://www.keratin.com/ab/ab006.shtml
hair defects table Home Forums Privacy Advertising ... Home On this page... Introduction The tables below records disorders known to involve hair shaft defects. The first table lists disorders where hair defects are a primary symptom. The second table lists disorders where hair defects can be one of several symptoms. Typically the other symptoms are of greater concern and health/life threatening. Links to relevant web pages on the Online Mendelian Inheritance in Man (OMIM) web database are also given where possible. Where a disorder is known by more than one name, alternative names are given in the second column and the record duplicated in the first column under each respective name. Brackets around alternative disorder names indicate an indirect association, for example a subcategory of the disorder. These records are not duplicated in the first column. List of disorders involving hair fiber defects as a primary symptom Disorders with hair defects as a primary symptom Alternative names for disorder Links to OMIM web pages for disorder (where available) Allotrichia circumscripta symmetrica capillitii

33. Diagnosis - Hypotrichosis Table
208900. Lowe syndrome, Oculocerebrorenal syndrome, 309000. Marasmus, marinescosjogren syndrome, 248800. Marshall syndrome, 154780. Mendes
http://www.keratin.com/ab/ab005.shtml
hypotrichosis table Home Forums Privacy Advertising ... Home On this page... Introduction The tables below records disorders known to involve hypotrichosis. The first table lists disorders where hypotrichosis is a primary symptom. The second table lists disorders where hypotrichosis can be one of several symptoms. Typically the other symptoms are of greater concern and health or life threatening. Many of these conditions involving hypotrichosis as a secondary symptom are ectodermal dysplasias. The clinical distinction between alopecia and hypotrichosis is that alopecia involves hair growth that is later lost. Hypotrichosis is a lack of any hair growth. The distinction between alopecia and hypotrichosis is not clear cut for many disorders. Some dermatologists will disagree with my listing. You may find some disorders in both the alopecia and hypotrichosis listings. This is not necessarily a complete list of disorders involving hypotrichosis. Links to relevant web pages on the Online Mendelian Inheritance in Man (OMIM) web database are also given where possible.

34. HealthCentral - General Encyclopedia - Congenital Cataract
Trisomy 13; Conradi syndrome; Ectodermal dysplasia; marinescosjogren syndrome. Note Sometimes, no cause can be identified. Prevention
http://www.healthcentral.com/mhc/top/001615.cfm
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35. Useful Links
March of Dimes Birth Defects Foundation, Marfan Syndrome National Marfan Foundation, 3285. marinescosjogren syndrome Support Website, 3438.
http://www.possum.net.au/links.htm

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Find out about the latest version of POSSUM. FAQ Frequently Asked Questions about POSSUM. Order Print an order form and send it to us. Links Discover syndrome web sites using our new list of useful links. Contact Maybe you'd like to tell us what you think about POSSUM, contribute pictures to the POSSUM database, or make some suggestions about how we can improve this website. Useful Links The information listed below is provided for informational purposes only. There is no implied endorsement by POSSUM. POSSUM does not promote or endorse participation in any specific organization. Every effort is made to ensure that the details for each entry are as current as possible. Syndrome Name POSSUM Number Aarskog Syndrome Parents Support Group (USA) Aarskog Syndrome Parents Support Group (UK) Aicardi Syndrome Foundation Alagille Syndrome Alliance ... Angelman Syndrome Foundation, Inc

36. Spinocerebellar Degenerations From Linkspider UK Health Directory
marinescosjogren syndrome - Information and a support group for families affected with this syndrome, a rare genetic disorder characterized by ataxia
http://linkspider.co.uk/Health/ConditionsandDiseases/NeurologicalDisorders/Spina
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Directory Topic Spinocerebellar Degenerations assoicated to Health
Directory Tree: Top Health Conditions and Diseases Neurological Disorders ... Spinal Cord : Spinocerebellar Degenerations (

37. Links
http//www.nzord.org.nz. marinescosjogren syndrome Support Group. www.marinesco-sjogren.org. Metabolic Dietary Disorders Association.
http://www.agsa-geneticsupport.org.au/links.html
Other Useful Links
AIS Support Groups Network (i.e.Androgen Insensitivity syndrome) http://www.vicnet.net.au/~aissg email: aissg@primus.com.au Aniridia Network P O Box 6444 Colchester CO 3XU UK hannah@aniridia-network.net Cancer Council NSW Hereditary Cancer Registers http://www.cancercouncil.com.au/editorial.asp?pageid=663 CLIMB
http://www.climb.org.uk
http://www.liv.ac.uk/cfgd Commonwealth Carelink Program - 1800 052 222 www.commcarelink.health.gov.au Contact a Family
http://www.cafamily.org.uk
Cri du Chat Syndrome http://www.criduchat.asn.au email: info@criduchat.asn.au Fragile X Association of Australia Inc. http://www.ozemail.com.au/~fragilex Genetic Alliance
http://www.geneticalliance.org
Genetic Interest Group http://www.gig.org.uk/linktogig.htm Genetic Support Council of WA http://geneticsupportcouncil.org.au Genetic Support Network Victoria (GSNV) www.gsnv.org.au Kidney Kids of NZ Support Group Inc P O Box 13732, Onehunga, Auckland http://www.kidneykids.org.nz

38. Taryn's Club Med: The Whole Kaboodle
disease CJ s Page Hunter s Hope, mannosidosis (my switch!) Jenny s Journal Mark and Adam Robert s Road to Recovery marinescosjogren syndrome About Kimberly
http://www.tarynsworld.org/taryn/clubmed-all.htm
taryn's world club med presents:
here 'r all the switch kid websites we've got so far; send me or my webmister webmister hint: just pick a letter, click 'n go - or you can always use the scroll bar thingy if you want to!
Click Hand for Club Med! new switch kids added:
May 27, 2003
autism
Bradley Olson: A Person With Autism
apert syndrome
Teeter's Page
cerebral palsy
Amanda's Friends Zoe's Page
coffin-siris syndrome
Tyler's Home Page
cornelia de lange
Amanda's Room Baylee's Web Suite
cutis laxa
Animaux en Folie (Taryn's World's very own reporter, Cecile!)
cystic fibrosis
Haley's Hope Ricky's Page
fanconia anemia
Hope For Henry
fibrodysplasia ossificans progressiva
Sarah Steele's Guidebook for Children
hunter syndrome
Ethan's Feeling Switch
hurler syndrome
Maddy's Page Reach Out to Romie
kabuki syndrome
Chayce's Page
klippel-trenaunay-weber syndrome
Tiffany's Page
krabbe disease
C.J.'s Page Hunter's Hope
mannosidosis (my switch!)
Jenny's Journal
Mark and Adam
Robert's Road to Recovery
marinesco-sjogren syndrome
About Kimberly
morquio syndrome
Home Page de Josuezinho e Isaque
muscular dystrophy
Ryan's MD Page
noonan syndrome
Darcie's Gallery of Stars
prader-willi syndrome
Karie's Story
progeria
Hayley's Progeria Page
sanfilippo syndrome
A Cure for Kirby Julia's Hope
skeletal dysplasia
My Ashly's rare skeletal dysplasia Page
sialidosis
Alexander's Hope
spina bifida
Taryn's Page Taryn
spinal muscular atrophy

39. FORMULAIRE INSCRIPTION RECHERCHE WWW.LACHAINETTE.COM
Contacts Enfermedad seleccionada marinescosjogren syndrome Id, First name, Country, Web. 877, Colleen, USA, http//www.marinesco-sjogren.org. 1630, Patrick, FRANCE,
http://www.lachainette.com/ES/ContactsPathologie.php?Action=contacter&Id=1832

40. FORMULAIRE INSCRIPTION RECHERCHE WWW.LACHAINETTE.COM
Contacts Rare disease selected marinescosjogren syndrome Id, First name, Country, Web. 877, Colleen, USA, http//www.marinesco-sjogren.org. 1630, Patrick, FRANCE,
http://www.lachainette.com/US/ContactsPathologie.php?Action=contacter&Id=1832

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