Search for a rare disease
Other search option(s)
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.
ORPHA:2790Classification level: Disorder
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.