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Autosomal dominant osteosclerosis, 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.
The syndrome has been described in less than 10 families.
Craniofacial anomalies develop during adolescence and include a prominent forehead, wide and deep mandibles, wide nasal root, taurus palatinus and increased gonial angle.
The syndrome is due to a mutation in the LRP5 gene that leads to increased bone formation.
Transmission is autosomal dominant.