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Genetic and Rare Diseases Information Center (GARD)

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Fine-Lubinsky syndrome


Other Names for this Disease
  • Brachycephaly - deafness - cataract - intellectual disability
  • Brachycephaly, deafness, cataract and mental retardation
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Overview

Fine-Lubinsky syndrome (FLS) is a very rare syndrome that affects various parts of the body. Signs and symptoms can vary and may include brachycephaly or plagiocephaly; structural brain abnormalities; abnormal EEG; intellectual disability; deafness; eye conditions (cataracts or glaucoma); distinctive facial features; and body asymmetry. The underlying cause of FLS remains unknown. Almost all cases have been sporadic (occurring in people with no family history of FLS) with the exception of 2 affected siblings, suggesting it was inherited in an autosomal recessive manner.[1][2][3]
Last updated: 6/23/2015

References

  1. Fine-Lubinsky syndrome. Orphanet. September 2007; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1272. Accessed 4/27/2011.
  2. Robert J. Gorlin, Meyer Michael Cohen, Raoul C. M. Hennekam. Syndromes of the Head and Neck, Fourth Edition. US: Oxford University Press; 2001;
  3. Corona-Rivera JR et. al. Further clinical delineation of Fine-Lubinsky syndrome. Am J Med Genet A. May, 2009; 149A(5):1070-1075.
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In Depth Information

  • 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 Fine-Lubinsky syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Brachycephaly - deafness - cataract - intellectual disability
  • Brachycephaly, deafness, cataract and mental retardation
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.