Endosteal Hyperostosis, Worth Type

Worth type autosomal dominant osteosclerosis is a sclerozing bone disorder characterized by generalized skeletal densification, particularly of the cranial vault and tubular long bones, which is not associated to an increased risk of fracture.

Epidemiology

The syndrome has been described in less than 10 families.

Clinical description

Craniofacial anomalies develop during adolescence and include a prominent forehead, wide and deep mandibles, wide nasal root, taurus palatinus and increased gonial angle.

Etiology

The syndrome is due to a mutation in the LRP5 gene that leads to increased bone formation.

Genetic counseling

Transmission is autosomal dominant.