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Marshall-Smith syndrome
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Marshall-Smith syndrome is a malformation syndrome characterized by advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features, and variable mental retardation.[1][2] Less than 40 cases have been reported in the literature, mostly as single case reports or small series.[2] Early death is common due to respiratory complications.[3][4] The cause of this disease remains unknown, but its sporadic occurrence suggests a de novo (new) dominant mutation.[5] Aggressive management of the early respiratory and feeding problems may improve survival in individuals affected by this condition.[6][7] 


References
  1. Marshall-Smith Syndrome. Online Mendelian Inheritance in Man (OMIM). 2006 Available at: http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602535. Accessed January 15, 2010.
  2. Travan L, Oretti C, Zennaro F, Demarini S. . Am J Med Genet A. 2008;:. Available at: http://www.ncbi.nlm.nih.gov/pubmed/18627063. January 15, 2010.
  3. Watanabe Y, Tanaka Y, Umemura N, Koitabashi T. . Masui. 2003;:. Available at: http://www.ncbi.nlm.nih.gov/pubmed/13677277. January 15, 2010.
  4. Babu D. What is Marshall-Smith Syndrome?. MSS Research Foundation. 2007 Available at: http://www.marshallsmith.org/content/view/1/2/lang,en/. Accessed January 15, 2010.
  5. Philip N. Marshall-Smith syndrome. Orphanet. 2006 Available at: http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=561. Accessed January 15, 2010.
  6. Deshpande C, Forrest M, Russell-Eggitt I, Hall CM, Mehta R, Paterson J. . Clin Dysmorphol. 2006;:. Available at: http://www.ncbi.nlm.nih.gov/pubmed/16531739. January 15, 2010.
  7. Williams DK, Carlton DR, Green SH, Pearman K, Cole TR. . J Med Genet. 1997;:. Available at: http://www.ncbi.nlm.nih.gov/pubmed/9350818. January 15, 2010.
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More Detailed Information (Found 4 resources)
Links where you can find more general information, comprehensive resources, selected full text journal articles, and news updates.

  • General

    • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
    • The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Marshall-Smith syndrome. Click on the link to go to OMIM and review these resources.
    • Orphanet is a database dedicated to information on rare diseases and orphan drugs.  Access to this database is free of charge.  Click on the link to read information on this topic.
    • PubMed is a searchable database of medical literature and lists journal articles that discuss Marshall-Smith syndrome. Click on the link to view a sample search on this topic.
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Organizations (Found 7 resources)
Groups providing a wide range of services, supportive resources, and information.

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    • DNAandU.org is a Web site and blog that collects firsthand stories from people facing issues, making tough decisions, and using genomic (DNA) information in their own healthcare.  Click on the link to learn from their experiences and/or submit your own story.

    • Madisons Foundation
      P.O. Box 241956
      Los Angeles, CA 90024
      Telephone: 310-264-0826
      Fax: 310-264-4766
      E-mail: getinfo@madisonsfoundation.org  
      Web site: http://www.madisonsfoundation.org/  
    • The National Organization of Rare Disorders (NORD) has partnered with Inspire.com to launch an online community for people with rare diseases called The NORD Rare Disease Community. This community connects medical patients, family members, caregivers, and professionals. Click on The NORD Rare Disease Community to learn more.
    • RareShare is an online social hub dedicated to patients, families and healthcare professionals affected by rare medical disorders. Click on RareShare to learn more.
 
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    • Many individuals want to know about healthcare professionals or researchers who have knowledge of their conditions. When a condition is rare, it can be difficult to find someone who has seen many cases. Although there is no list of experts in rare diseases, GARD's How to Find an Expert fact sheet provides several ways to identify healthcare professionals who have experience with a particular condition. Click on the link to access this resource and learn more.

  • Parent Resources

    • The Parent Technical Assistance Center Network provides a list of the Parent Training and Information Centers in each state. These centers are funded by the United States Department of Education to provide early intervention and special education information and training to parents of children with disabilities from birth to age 26. Click on the link to find the Parent Center in your state.
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Scientific Conferences (Found 2 resources)
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    • RDCRN 3rd Conference on Clinical Research for Rare Diseases, October 2, 2012
      Location: Hilton Washington DC/Rockville Hotel & Executive Meeting Center, Rockville, MD
      Description: Clinical research in rare diseases presents a number of challenges and unique issues that are not usually considered in the training of clinical investigators through existing training programs. Goals of the conference include: Direct instruction of trainees and new investigators in rare disease research methodology; Development of a reusable curriculum/syllabus on rare disease research methodology; Stimulation of ideas regarding the unique issues facing investigators engaged in the study of rare diseases
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Clinical Trials & Research (Found 2 resources)
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    • NIH Clinical Trials and You is a website developed by the National Institutes of Health (NIH) to help people learn more about clinical trials, why they matter, and how to participate.
  • Patient Registry

    • ResearchMatch is a free national research registry designed to bring together patients, healthy volunteers and researchers. Anyone from the United States can register with ResearchMatch, and a parent, legal guardian, or caretaker may register on behalf of a volunteer. Researchers from participating institutions use the ResearchMatch database to search for patients or healthy volunteers who meet the study criteria. Many studies are looking for healthy people of all ages, while some are looking for people with specific illnesses. ResearchMatch was developed by major academic institutions across the country and is funded by the National Center for Research Resources (NCRR), a center of the National Institutes of Health (NIH), the primary Federal agency for conducting and supporting medical research. Click on the link to learn more about ResearchMatch.

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