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Genetic and Rare Diseases Information Center (GARD)


Other names people use for this condition
  • Carey Fineman Ziter syndrome
  • CFZ syndrome
  • Moebius sequence, Robin complex, and hypotonia
  • Myopathy, congenital nonprogressive with Moebius and Robin sequences
Home > Rare Diseases and Related Terms > Congenital nonprogressive myopathy with Moebius and Robin sequences



Congenital nonprogressive myopathy with Moebius and Robin sequences
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Congenital nonprogressive myopathy with Moebius and Robin sequences, also known as Carey Fineman Ziter syndrome, is characterized by the association of hypotonia, Moebius sequence, Pierre-Robin sequence, unusual facial features, and growth delay.[1] The condition appears to be inherited in an autosomal recessive manner.[1][2] Less than 20 cases have been reported the literature.[1]


References
  1. Carey-Fineman-Ziter syndrome. Orphanet. 2006 Available at: http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1358. Accessed September 9, 2011.
  2. Myopathy, Congenital Nonprogressive, with Moebius Sequence and Robin Sequence. Online Mendelian Inheritance in Man (OMIM). 2008 Available at: http://omim.org/entry/254940. Accessed September 9, 2011.
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More Detailed Information (Found 4 resources)
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  • General

    • The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Congenital nonprogressive myopathy with Moebius and Robin sequences. 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 Congenital nonprogressive myopathy with Moebius and Robin sequences. Click on the link to view a sample search on this topic.
    • The Muscular Dystrophy Association has developed a resource called "Facts About Myopathies" that discusses commonly asked questions regarding myopathies. Click on the link above to view this information page.
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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/  
    • RareShare is an online social hub dedicated to patients, families and healthcare professionals affected by rare medical disorders.
 
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  • Past Conferences

    • 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; and stimulation of ideas regarding the unique issues facing investigators engaged in the study of rare diseases.
    • VI International Conference on Rare Diseases and Orphan Drugs (ICORD 2010): Global Approach to Accessibility in Rare Diseases, Orphan Drugs and Neglected Diseases , March 18, 2010 - March 20, 2010
      Location: Palais Rouge Convention Center, Palermo, Buenos Aires
      Description: For the first time, the VI International Conference on Rare Diseases and Orphan Drugs (ICORD 2010) was convened in the southern hemisphere in agreement with its aim of globalization of rare diseases research and orphan products development activities.
 
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