SOST-Related Sclerosing Bone Dysplasia

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SOST-related sclerosing bone dysplasias are disorders of bone development that are characterized by abnormal hardening (sclerosis) of the bone and increased bone formation (hyperostosis). As a result, bones throughout the body may be denser and wider than normal. The bones of the skull, lower jaw (mandible), arms, and legs are particularly affected. The hyperostosis typically worsens over time as bone formation continues, which causes certain skeletal features to become more pronounced with age.

Genetic changes in or near the SOST gene cause SOST-related sclerosing bone dysplasias. The SOST gene provides instructions for making the protein sclerostin. Sclerostin is produced in bone cells called osteocytes and plays an important role in bone formation.

SOST-related sclerosing bone dysplasias are rare. Approximately 100 cases of SOST-related sclerosteosis have been reported in the scientific literature. This condition appears to be most common in the Afrikaner population of South Africa, where as many as 1 in 60,000 people may have the condition.

SOST-related sclerosing bone dysplasias are inherited in an autosomal recessive pattern, which means that the genetic change must be present in both copies of the gene in each cell to cause the disorder. The parents of an individual with an autosomal recessive condition each carry one copy of the altered gene, but they typically do not show signs and symptoms of the condition.

Published Date: May 15, 2026
Published By: National Institutes of Health