This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
Baller-Gerold syndrome (BGS) is a rare condition primarily affecting the way the bones of the skull and limbs grow. Features include premature fusion of specific skull bones (craniosynostosis) and underdevelopment of the bones in the arms and hands (radial ray anomalies). In addition, they may have a characteristic skin condition that includes patches of discoloration and skin breakdown (poikiloderma). People with BGS may have growth delay and be at increased risk for certain types of cancer. Intelligence is usually normal. Most cases of BGS are caused by alterations in the RECQL4 gene. It is inherited in an autosomal recessive manner. Treatment may include surgery for craniosynostosis or for reconstruction of the arm and hand. The symptoms of Baller-Gerold syndrome overlap with features of Rothmund-Thomson syndrome and RAPADILINO syndrome which are also caused by the RECQL4 gene.
For more information, visit GARD.