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Marinesco-Sjogren Syndrome

Marinesco-Sjogren Syndrome (or Marinescu. Sjogren Syndrome) is a very rare genetic disorder characterized by ataxia (balance and coordination problems), juvenile cataracts, generally some degree of cognitive delay, and very small stature. About 100-200 cases of MSS have been diagnosed worldwide. Explore our site to learn more about MSS or contact us. Please visit www.sjogrens.org. Learn about the Sil1 gene. Sign up for our newsletter. Join the MSS registry. Information in other languages:.

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Marinesco-Sjogren Syndrome | marinesco-sjogren.org Reviews
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Marinesco-Sjogren Syndrome (or Marinescu. Sjogren Syndrome) is a very rare genetic disorder characterized by ataxia (balance and coordination problems), juvenile cataracts, generally some degree of cognitive delay, and very small stature. About 100-200 cases of MSS have been diagnosed worldwide. Explore our site to learn more about MSS or contact us. Please visit www.sjogrens.org. Learn about the Sil1 gene. Sign up for our newsletter. Join the MSS registry. Information in other languages:.
<META>
KEYWORDS
1 faqs
2 medical overview
3 family stories
4 research
5 resources
6 medical advisory board
7 publications
8 welcome
9 mss gene identified
10 rareconnect
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faqs,medical overview,family stories,research,resources,medical advisory board,publications,welcome,mss gene identified,rareconnect,deutsch,mss@marinesco sjogren org
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Marinesco-Sjogren Syndrome | marinesco-sjogren.org Reviews

https://marinesco-sjogren.org

Marinesco-Sjogren Syndrome (or Marinescu. Sjogren Syndrome) is a very rare genetic disorder characterized by ataxia (balance and coordination problems), juvenile cataracts, generally some degree of cognitive delay, and very small stature. About 100-200 cases of MSS have been diagnosed worldwide. Explore our site to learn more about MSS or contact us. Please visit www.sjogrens.org. Learn about the Sil1 gene. Sign up for our newsletter. Join the MSS registry. Information in other languages:.

INTERNAL PAGES

marinesco-sjogren.org marinesco-sjogren.org
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index

http://www.marinesco-sjogren.org/support.html

National Organization for Rare Disorders (NORD). National Institutes of Health Office of Rare Disorders. Climb (Inborn Errors of Metabolism - UK). Contact a Family (UK). Database of Rare Diseases (France). University of Kansas Genetic and Rare Conditions Site. Early Intervention (from Kid-Source). Individuals with Disabilities Education Act (IDEA). The Special Ed Advocate. The Arc (Association of Retarded Citizens).

2

index

http://www.marinesco-sjogren.org/family.html

Eleven families affected by MSS share their personal stories. Click on picture or first name to read more. Tammy (23) and Isaac (21). Raphaela (left) and Roberto (right). 13 and 23 years.

3

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http://www.marinesco-sjogren.org/medical.html

William Wilcox, MD, PhD. Syndrome (MSS, OMIM 248800) is a rare, autosomal. Recessive disorder featuring cataracts, cerebellar ataxia, mental retardation, muscle weakness, short stature, and frequently hypergonadotropic hypogonadism. MSS is usually evident at birth because of hypotonia. MSS is inherited as an autosomal. Recessive trait with complete penetrance. In both sexes. It is panethnic. But very rare except in genetic isolates, such as one in rural. Treatment is supportive and based on symptomatology.

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http://www.marinesco-sjogren.org/FAQ.html

Frequently Asked Questions (FAQ). What are the symptoms of MSS? Some symptoms occur in almost all reported cases of MSS. These symptoms include. Progressive loss of transparency of the eye lens),. Impaired ability to coordinate movement), hypotonia. Floppiness), short stature,. Slow, weak, or imprecise speech due to weakness or incoordination. Of speech muscles), and mental retardation (generally in the mild-moderate range). Other symptoms such as hypergonadotropic hypogonadism. How is MSS inherited?

5

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http://www.marinesco-sjogren.org/pubs.html

Are available. E-mail. Us with your name, address, and the number of brochures you would like to receive. Access newsletters by clicking on issue (. Fall 2002: Medical Overview, Family News: Misa. Kimberly, NORD Conference, Improving Walking. Function in MSS, Family News: Lau family, Finger and Hand Strength. Summer 2003: ASHG meeting, update on Sylvain, full inclusion, sports and recreation, medical update. Fall 2003: Cataracts in MSS, First MSS family meeting, New family from Brazil. December 2014: Fam...

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Media informasi and konsultasi kesehatan respirasi. Bronkiektasis (BE)adalah penyakit saluran napas kronik ditandai dengan dilatasi abnormal yang permanen disertai rusaknya dinding bronkus. Biasanya pada daerah tersebut ditemukan perubahan yang bervariasi termasuk di dalamnya inflamasi transmural, edema mukosa (BE silindris), ulserasi (BE kistik) dengan neovaskularisasi dan timbul obstruksi berulang karena infeksi sehingga terjadi perubahan arsitektur dinding bronkus serta fungsinya. Ongenital terjadi pa...

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Marinesco-Sjogren Syndrome

Marinesco-Sjogren Syndrome (or Marinescu. Sjogren Syndrome) is a very rare genetic disorder characterized by ataxia (balance and coordination problems), juvenile cataracts, generally some degree of cognitive delay, and very small stature. About 100-200 cases of MSS have been diagnosed worldwide. Explore our site to learn more about MSS or contact us. Please visit www.sjogrens.org. Learn about the Sil1 gene. Sign up for our newsletter. Join the MSS registry. Information in other languages:.

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