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Genetic and Rare Diseases Information Center (GARD)

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Congenital nonprogressive myopathy with Moebius and Robin sequences


Other Names for this Disease
  • Carey Fineman Ziter syndrome
  • CFZ syndrome
  • Moebius sequence, Robin complex, and hypotonia
  • Myopathy, congenital nonprogressive with Moebius and Robin sequences
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Overview


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]
Last updated: 9/9/2011

References

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

  • 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.

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • 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.