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Diseases

Genetic and Rare Diseases Information Center (GARD)

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 Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a 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.
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
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.