Worth type autosomal dominant osteosclerosis

Other Names: Osteosclerosis, autosomal dominant; Endosteal hyperostosis, autosomal dominant; Osteosclerosis, autosomal dominant, Worth type; Worth syndrome; Endosteal hyperostosis, Worth type; Autosomal dominant osteosclerosis, Worth type; Hyperostosis corticalis generalisata, benign form of Worth with torus palatinus

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.

Cause

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

Inheritance

Autosomal dominant pattern, a 50/50 chance.

Transmission is autosomal dominant.

Signs and symptoms

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

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms

• Abnormal cortical bone morphology
• Abnormality of the ribs(Rib abnormalities)
• Clavicular sclerosis(Increased bone density in collarbone)
• Craniofacial hyperostosis(Excessive bone growth of the skull and face)
• Diaphyseal thickening(Thickening of shaft or central part of long bones)
• Generalized osteosclerosis
• Torus palatinus

30%-79% of people have these symptoms

• Abnormal form of the vertebral bodies
• Sclerotic vertebral body

5%-29% of people have these symptoms

• Facial palsy(Bell's palsy)
• Mandibular prognathia(Big lower jaw)
• Nystagmus(Involuntary, rapid, rhythmic eye movements)
• Sensorineural hearing impairment

NIH genetic and rare disease info

• NIH info on Worth type autosomal dominant osteosclerosis

Worth type autosomal dominant osteosclerosis is a rare disease.

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