Baller-Gerold syndrome

Baller-Gerold syndrome describes the combination of corneal suture synostosis and radial beam anomalies. The anomalies vary from oligodactyly, thumb aplasia or hypoplasia, to radius aplasia or hypoplasia.

The previously 30 known patients were born with craniosynostosis with brachycephaly, exophthalmos, balcony frontal and facial dysmorphisms.

Poikiloderma may occur during the first months of life, and later aplasia or hypoplasia of the patella may occur.

The intelligence of those affected is usually not affected, but growth is usually retarded. Patients are prone to cancer, especially osteosarcomas.

The causes are mutations in the RECQL4 gene.