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Genetic and Rare Diseases Information Center (GARD)

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Baller-Gerold syndrome


Other Names for this Disease
  • BGS
  • Craniosynostosis with radial defects
  • Craniosynostosis-radial aplasia syndrome
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Overview


Baller-Gerold syndrome is a rare condition characterized by the premature fusion of certain skull bones (craniosynostosis) and abnormalities of bones in the arms and hands, sometimes referred to as radial ray anomalies. Many cases of Baller-Gerold syndrome are caused by mutations in the RECQL4 gene. These cases are inherited in an autosomal recessive manner. In a few reported cases, the characteristic features of Baller-Gerold syndrome have been associated with prenatal exposure to a drug called sodium valproate which is used to treat epilepsy and certain psychiatric disorders. [1] Treatment may include surgery for treatment of craniosynostosis or reconstruction of the index finger to functional thumb.[2] The symptoms of Baller-Gerold syndrome overlap with features of Rothmund-Thomson syndrome and RAPADILINO syndrome which are also caused by the RECQL4 gene. Researchers are trying to determine if these conditions are separate disorders or part of a single syndrome with overlapping signs and symptoms.[1]
Last updated: 5/25/2011

References

  1. Baller-Gerold syndrome. Genetics Home Reference (GHR). 2008; http://ghr.nlm.nih.gov/condition/baller-gerold-syndrome. Accessed 5/26/2011.
  2. Faivre L. Baller-Gerold syndrome. Orphanet. 2009; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=1225. Accessed 5/26/2011.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Baller-Gerold syndrome. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

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 Baller-Gerold syndrome. Click on the link to view a sample search on this topic.