Baller-Gerold syndrome

Baller-Gerold syndrome is a rare genetic condition that is primarily characterized by the early fusion of skull bones (coronal craniosynostosis) along with anomalies of the bones in the arms (radial ray anomalies). These limb differences may include fewer than normal fingers (oligodactyly), underdeveloped or missing thumbs, and underdevelopment or absence of the radius bone. People with this condition may have a combination of these cranial and limb findings. The syndrome has been observed in multiple cases and is recognized through its distinct pattern of bone involvement. Further details on the wide range of clinical presentations are still being studied.

The common signs of Baller-Gerold syndrome include the early fusion of skull bones (coronal craniosynostosis) and various limb anomalies. Limb issues may involve fewer fingers (oligodactyly) and problems with the development of the thumb and radius bone, which can manifest as either underdevelopment (hypoplasia) or absence (aplasia).

Baller-Gerold syndrome is linked to genetic changes and is associated with variants in the RECQL4 gene. This genetic link suggests that changes in this specific gene are a major cause of the condition.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.