This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
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.  Treatment may include surgery for treatment of craniosynostosis or reconstruction of the index finger to functional thumb. 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. in the RECQL4 gene. ...
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Last Updated: 05/25/2011