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[edit | edit source]
The syndrome has been described in less than 10 families.
Cause[edit | edit source]
The syndrome is due to a mutation in the LRP5 gene that leads to increased bone formation.
Inheritance
Transmission is autosomal dominant.
Signs and symptoms[edit | edit source]
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[edit source]
Worth type autosomal dominant osteosclerosis is a rare disease.
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