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         Marinesco-sjogren Syndrome:     more detail

21. 1Up Health > Health Links Directory > Conditions And Diseases: M
Atrophic Papulosis (4) Malnutrition (9) Mannosidosis (2) Marburg (6) Marfan Syndrome(40) MarieSainton Disease (6) marinesco-sjogren syndrome (5) Mayer
http://www.1uphealth.com/links/conditions-and-diseases-m.html
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22. Searchalot Directory For M
Syndrome (39); MarieSainton Disease (6); marinesco-sjogren syndrome(5); Mayer Rokitansky Kuster Hauser Syndrome (10); McArdle's Disease
http://www.searchalot.com/Top/Health/ConditionsandDiseases/M/
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23. GS
MAPLE SYRUP URINE DISEASE, TYPE IB(OMIM) MARDENWALKER SYNDROME(OMIM) marinesco-sjogren syndrome; MSS(OMIM
http://nigiwai.net/gs1/omim8.htm
GeneticSupportƒgƒbƒvƒy[ƒW‚Ö
@MACROCEPHALYi j
@HYPOMAGNESEMIA, PRIMARYi j
@MALPUECH FACIAL CLEFTING SYNDROMEi j
@MAPLE SYRUP URINE DISEASE, TYPE IAi j
@MAPLE SYRUP URINE DISEASE, TYPE IIi j
@MAPLE SYRUP URINE DISEASE, TYPE IBi j
@MARDEN-WALKER SYNDROMEi j
@MARINESCO-SJOGREN SYNDROME; MSSi j
@MARINESCO-SJOGREN-LIKE SYNDROME; MSLSi j
@MCDONOUGH SYNDROMEi j @MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROMEi j @MEGAEPIPHYSEAL DWARFISMi j @MEGALOCORNEA-MENTAL RETARDATION SYNDROMEi j @MELANOSIS, NEUROCUTANEOUSi j @MENTAL RETARDATION, CONGENITAL HEART DISEASE, BLEPHAROPHIMOSIS, BLEPHAROPTOSIS, AND HYPOPLASTIC TEETHi j @LANGER MESOMELIC DYSPLASIAi j @METAPHYSEAL ACROSCYPHODYSPLASIAi j @CARTILAGE-HAIR HYPOPLASIA; CHHi j @METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPEi j @METAPHYSEAL MODELING ABNORMALITY, SKIN LESIONS, AND SPASTIC PARAPLEGIAi j @METATROPIC DWARFISMi j @METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASEi j @METHYLMALONICACIDURIA DUE TO METHYLMALONIC CoA MUTASE DEFICIENCYi j @METHYLMALONICACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMINcbl Ai

24. The Kuwait Medical Genetics Centre
entity of syndromic dextrocardia, cases of Joubert's syndrome, SmithLemli-Opitzsyndrome, Sjogren-Larsen syndrome, marinesco-sjogren syndrome, Troyer- like
http://www.safat.com/kgc.html
The Kuwait Medical Genetics Centre (KMGC) was established in January, 1979, with the following aims:
  • The accurate diagnosis of rare monogenic diseases.
  • Investigating cases of congenital malformations.
  • Providing genetic counselling for families with genetic disorders e.g. cases of male/female primary infertility, recurrent pregnancy loss, congenital malformations, structural/numerical chromosomal abnormalities, genetic forms of mental retardation, f amilial visual disorders and pre-marital counselling.
  • Exploring the possible means of reducing neonatal mortality and physical disability.
  • Providing training programmes for doctors and technical staff in the area of genetic counselling.
  • The KMGC represents an independent entity located in the Maternity Hospital, and is affiliated to the Ministry of Health. The service is provided to a population size of 1.575.983 persons, including 655.820 (41.6%) Kuwaiti citizens and 920.163 (58.4%) non -Kuwaiti residents, mostly of Arab nationalities. The service is provided in liaison with departments of different specialities in satellite Genetics clinics attached to 5 regional hospitals including:
  • Sabah and Ameri Hospital (serving 192.800 persons)
  • 25. Rare Disease Support Community
    Syndrome Type I Marfan Syndrome Type II Marfan Syndrome Type III Marfan SyndromeType IV Marfan Syndrome Type V marinescosjogren syndrome Maroteaux-Lamy
    http://www.angelfire.com/on2/egroups/M
    M Macular Degeneration
    Mad Cow Disease

    Malignant Hyperthermia

    Mallory-Weiss Syndrome
    ...
    RETURN HOME

    26. MEDLINEplus Medical Encyclopedia: Congenital Cataract
    HallermanStreiff syndrome; cerebrohepatorenal syndrome (Lowe's syndrome); Trisomy13; Conradi syndrome; Ectodermal dysplasia syndrome; marinesco-sjogren syndrome.
    http://www.nlm.nih.gov/medlineplus/ency/article/001615.htm
    Skip navigation
    Medical Encyclopedia
    Other encyclopedia topics: A-Ag Ah-Ap Aq-Az B-Bk ... Z
    Congenital cataract
    Contents of this page:
    Illustrations
    Eye Cataract - close-up of the eye Rubella Syndrome Cataract Alternative names Return to top Cataract - congenital Definition Return to top A cataract is any clouding of the lens of the eye. a congenital cataract is an opacity of the lens that occurs in the fetus at some time during pregnancy and is present at birth. Causes, incidence, and risk factors Return to top Although there are many diseases and inherited disorders that can lead to congenital cataracts, the actual incidence of congenital cataracts is low. In most patients with congenital cataract, no specific cause can be identified.
    This is a partial list of possible causes of congenital cataracts:
    • galactosemia chondrodysplasia syndrome congenital rubella syndrome Down's syndrome (trisomy 21) Pierre-Robin syndrome familial congenital cataracts Hallerman-Streiff syndrome cerebrohepatorenal syndrome (Lowe's syndrome) Trisomy 13 Conradi syndrome Ectodermal dysplasia syndrome Marinesco-Sjogren syndrome
    Symptoms Return to top
    • Opacity of the lens, often evident at birth without special viewing equipment and appearing as a whitish discoloration in an otherwise normally dark pupil.

    27. Select Entries From OMIM -- Online Mendelian Inheritance In Man
    123580 CRYSTALLIN, ALPHAA; CRYAA *120140 COLLAGEN, TYPE II, ALPHA-1; COL2A1 *261600PHENYLKETONURIA *248800 marinesco-sjogren syndrome; MSS *115650 CATARACT
    http://anatomy.med.unsw.edu.au/cbl/embryo/OMIMfind/eye/congen_cataract.htm
    Select Entries from OMIM Online Mendelian Inheritance in Man
    Back to Senses Abnormalities 109 entries found, searching for "congenital cataracts"
    CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY
    CATARACTS, CONGENITAL, WITH SENSORINEURAL DEAFNESS, DOWN SYNDROME-LIKE FACIAL APPEARANCE, SHORT STATURE, AND MENTAL RETARDATION
    SPINOCEREBELLAR DEGENERATION WITH MACULAR CORNEAL DYSTROPHY, CONGENITAL CATARACTS, AND MYOPIA
    SPLIT-HAND WITH CONGENITAL NYSTAGMUS, FUNDAL CHANGES, AND CATARACTS
    HYPERFERRITINEMIA-CATARACT SYNDROME
    CATARACT, CONGENITAL TOTAL, WITH POSTERIOR SUTURAL OPACITIES IN HETEROZYGOTES; CCT
    CATARACT, CONGENITAL OR JUVENILE
    OCULOFACIOCARDIODENTAL SYNDROME
    PAIRED-LIKE HOMEODOMAIN TRANSCRIPTION FACTOR 3; PITX3
    CATARACT, CONGENITAL, CERULEAN TYPE, 2; CCA2 CATARACT, CONGENITAL, CERULEAN TYPE, 1; CCA1 LACTOSE INTOLERANCE, CONGENITAL GLUCOSE-6-PHOSPHATE DEHYDROGENASE; G6PD DYSTROPHIA MYOTONICA COCHLEOSACCULAR DEGENERATION OF THE INNER EAR WITH PROGRESSIVE CATARACTS CORNEA GUTTATA WITH ANTERIOR POLAR CATARACTS MICROPHTHALMIA-CATARACT CATARACT, TOTAL CONGENITAL; CC

    28. UNSW Embryology-OMIM Scoliosis List
    271270 SPINOCEREBELLAR ATAXIA WITH DYSMORPHISM *300061 MENTAL RETARDATION, XLINKED;DXS6673E *248800 marinesco-sjogren syndrome; MSS *249310 MEGALOCORNEA
    http://anatomy.med.unsw.edu.au/cbl/embryo/OMIMfind/skmus/OMIM-scoliosis_list.htm
    UNSW Embryology
    MUSCULOSKELETAL DEVELOPMENT Embryology Home Page
    Select Entries from OMIM Online Mendelian Inheritance in Man (Internet Link) This page is for computers without external internet access. Internet access computers can see the full description of the abnormality from the links below. Back to UNSW Embryology-Musculoskeletal Notes 160 entries found, searching for " scoliosis SCOLIOSIS, IDIOPATHIC
    OPHTHALMOPLEGIA, PROGRESSIVE EXTERNAL, AND SCOLIOSIS
    RADIOULNAR SYNOSTOSIS WITH SHORT STATURE, MICROCEPHALY, SCOLIOSIS, AND MENTAL RETARDATION
    SHPRINTZEN OMPHALOCELE SYNDROME
    DISLOCATED ELBOWS, BOWED TIBIAS, SCOLIOSIS, DEAFNESS, CATARACT, MICROCEPHALY, AND MENTAL RETARDATION
    SYNSPONDYLISM, CONGENITAL
    FIBRILLIN 1; FBN1
    CONTRACTURAL ARACHNODACTYLY, CONGENITAL; CCA
    FRIEDREICH ATAXIA 1; FRDA

    29. M
    MarieSainton Disease; @ marinesco-sjogren syndrome; @ Mayer RokitanskyKuster Hauser Syndrome; @ McArdle's Disease; @ Measles,Red; @ Measles
    http://www.ad.com/Health/Conditions_and_Diseases/M/
    search
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    30. NIH Guide: THE HEREDITARY ATAXIAS INCLUDING MACHADO-JOSEPH DISEASE
    hereditary cerebellar ataxias, ataxiatelangiectasia, hereditary spastic paraplegia,Roussy-Levy and marinesco-sjogren syndrome, abetalipoproteinemia (Bassen
    http://grants.nih.gov/grants/guide/pa-files/PA-92-048.html
    Return to 1992 Index Return to NIH Guide Main Index
    Department of Health
    and Human Services
    National Institutes of Health (NIH)
    9000 Rockville Pike
    Bethesda, Maryland 20892

    31. Browsing Health Conditions And Diseases M Category
    Syndrome Malignant Atrophic Papulosis Malnutrition Mannosidosis Marburg MarfanSyndrome MarieSainton Disease marinesco-sjogren syndrome Mayer Rokitansky
    http://www.uksprite.com/search/search/Health/Conditions_and_Diseases/M/

    32. Useful Links
    March of Dimes Birth Defects Foundation, Marfan Syndrome National MarfanFoundation, 3285. marinescosjogren syndrome Support Website, 3438.
    http://www.possum.net.au/links.htm

    POSSUM News
    View a demo of POSSUM in action read more...
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    Upcoming release - web enabled POSSUM read more... About 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 ... WAGR/Aniridia Network

    33. Health Library - Marinesco Sjogren Syndrome
    Search. Marinesco Sjogren Syndrome. None. General Discussion. marinescosjogren syndromeis a rare disorder that is inherited through autosomal recessive genes.
    http://yourhealth.stlukesonline.org/Library/HealthGuide/IllnessConditions/topic.

    34. 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

    35. 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.

    36. 1992 KJMS
    TI marinescosjogren syndrome with reduced cytochrome c oxidase in muscle.AU Kodama-S; Komatsu-M; Miyoshi-M; Nakao-H; Sakurai-T; UM.
    http://www.med.kobe-u.ac.jp/journal/contents/1992/245-54(1992).html

    37. AtaxiasUntitled
    and eunuchoidism), Hereditary ataxia (with myotonia and cataracts), Hypertrophicinterstitial neuritis, marinescosjogren syndrome, Pelizaeus-Merzbacher disease
    http://www.cmdg.org/Movement_/ataxias/ataxias.htm
    The Canadian Movement Disorder Group Ataxia Ataxia is a term to describe loss of balance. The part of the brain that is involved in balance is at the back of the brain, attached to the brainstem, and is called the "Cerebellum". Damage to the cerebellum or its connections will result in unsteadiness of walking, and clumsiness of hand and foot coordination. Many conditions can cause the cerebellum to stop working normally. Cause of Ataxia include a huge number of conditions: Drug / Toxin induced cerebellar dysfunction: These include drugs; Clonazepam, Tegretol, Phenobarb, Primidone, Dilantin and toxins including; acute alcohol intoxication, alcoholism, solvent abuse , lead / mercury Trauma to the cerebellum Head Injury Endocrine Disorders (diseases of the glands that release hormones) Hypothyroidism Nutritional Deficiencies Vitamin B12 deficiency Neoplastic (Tumor) Paraneoplastic (Associated with a distant tumor) Vascular Causes (Stroke) These include; vasculitis (inflamation of blood vessels eg. Lupus), angioblastoma (a tumor of the blood vessels), embolism (a blood clot plugging a blood vessel), hemorrhage (a blood vessel rupturing and bleeding into the cerebellum), and Von-Hippel-Lindau Syndrome (a disorder of blood vessel formation)

    38. WebGuest - Open Directory : Health : Conditions And Diseases : Neurological Diso
    Sites marinescosjogren syndrome - Information and a support group for familiesaffected with this syndrome, a rare genetic disorder characterized by ataxia
    http://directory.webguest.com/index.cgi/Health/Conditions_and_Diseases/Neurologi
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    the entire directory only in Top Health Conditions and Diseases Neurological Disorders ... Spinal Cord : Spinocerebellar Degenerations
    Sites:
    • Marinesco-Sjogren Syndrome - Information and a support group for families affected with this syndrome, a rare genetic disorder characterized by ataxia, cataracts, very small stature, and mental retardation.
    Last update: 8:46 PT, Wednesday, October 31, 2001
    Help build the largest human-edited directory on the web. Submit a Site Open Directory Project
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    39. M Website Results :: Linkspider UK
    Mannosidosis@ (2); Marburg@ (6); Marfan Syndrome@ (39); MarieSaintonDisease@ (6); marinesco-sjogren syndrome@ (5); Mayer Rokitansky Kuster
    http://www.linkspider.co.uk/Health/ConditionsandDiseases/M/
    M Websites from Linkspider UK Keyword: M Linkspider UK Directory
    M
    Search for
    Directory Tree: Top Health Conditions and Diseases : M (0) Add URL Advertise Here! Personalize Amazon ...
  • Myotonic Dystrophy
  • 40. Katalog :  : Health : Conditions_and_Diseases : M :  - Netz-Tipp.De
    Syndrome (*);Marie-Sainton Disease (*); marinesco-sjogren syndrome (*); Mayer
    http://www.netz-tipp.de/kat/Health/Conditions_and_Diseases/M/
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