Hyperostosis corticalis deformans juvenilis [Supplementary Concept]
A juvenile-onset form of Paget disease, a disorder of the skeleton resulting from abnormal bone resorption and formation. Symptoms are variable and may appear in infancy or later childhood, they include short stature, progressive long bone deformities, fractures, vertebral collapse, enlarged skull, and HYPEROSTOSIS; and SENSORINEURAL HEARING LOSS. It is caused by mutations in the OSTEOPROTEGERIN (TNFRSF11B) gene. OMIM: 239000
Date introduced: August 25, 2010
MeSH Unique ID: C537701
Heading Mapped to:
Entry Terms:
- Hyperphosphatasia, familial idiopathic
- Hyperphosphatasemia, chronic congenital idiopathic
- Osteoectasia, familial
- Juvenile Paget Disease
- Osteoectasia with Hyperphosphatasia
- Familial Idiopathic Hyperphosphatasemia
- Familial Osteoectasia
- Hyperphosphatasemia with Bone Disease
- Idiopathic Hyperphosphatasia
- Juvenile Paget's Disease
- Osteochalasia Desmalis Familiaris
- Paget disease of bone 5, juvenile-onset
- Chronic Congenital Idiopathic Hyperphosphatasemia