Disease name
|
Endosteal hyperosteosis,worth type
Endosteal hyperosteosis,worth type
|
|
Marker gene
|
Gene symbol
|
Chromosome location
|
Protein name
|
LRP5
|
11q13.2 |
Low-density lipoprotein receptor-related protein 5 |
|
|
ICD 10 code
|
Q78.8 |
|
MIM number
|
144750
|
|
Synonym
|
Endosteal hyperostosis, Worth type |
Worth syndrome |
|
Summary
|
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.
|
|