Baller–Gerold syndrome

Baller–Gerold syndrome (BGS) is a rare autosomal recessive genetic disorder characterized by an abnormally shaped skull, caused by premature fusion of certain bones in the skull, short stature, and aplasia or hypoplasia of the radius bone in the forearm.^[1][2] This premature fusion occurs on the frontal plane and is called coronal craniosynostosis. This premature fusion alters the pattern of growth for the brain, and causes the abnormal-shaped skull (brachycephaly).

BGS is a rare condition that is estimated to have an incidence rate of less than one per million.^[2]

The cause of some BGS is a homozygous or compound heterozygous mutation in the RECQL4 gene. Other genes may be involved but RECQL4 is currently the only identified one.^[1]

See also

• Craniosynostosis

References