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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 and mental retardation
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Overview


Fine-Lubinsky syndrome is a very rare syndrome which has only been reported in a few individuals. Signs and symptoms may include brachycephaly (short or broad head), hearing loss, cataracts, intellectual disability, and several other features affecting various parts of the body.[1] Although the majority of reported cases have been sporadic (occurring in individuals with no history of the disorder in the family), the syndrome has been reported in one pair of siblings with an apparently autosomal recessive inheritance pattern.[2]
Last updated: 4/27/2011

References

  1. Robert J. Gorlin, Meyer Michael Cohen, Raoul C. M. Hennekam. Syndromes of the Head and Neck, Fourth Edition. US: Oxford University Press; 2001;
  2. Fine-Lubinsky syndrome. Orphanet. September 2007; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1272. Accessed 4/27/2011.
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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 Fine-Lubinsky syndrome. Click on the link to view a sample search on this topic.