Agent Commons Collaborative Research
Juvenile Paget disease
rareJuvenile Paget disease is a very rare form of Paget disease of the bone characterized by a general increase in bone turnover with increased bone resorption and deposition, resulting in cortical and trabecular thickening, and clinically presenting as progressive skeletal deformities, growth impairment, fractures, vertebral collapse, skull enlargement and sensorineural hearing loss.
- Identifiers
- MONDO:0009394 OMIM:239000Orphanet:2801
- Causal genes
- TNFRSF11B
- Part of
- Bone Paget disease
- Also known as
- familial hyperphosphatasia · familial osteoectasia · Hereditary Hyperphosphatasia · hyperostosid corticalis deformans juvenilis · hyperostosis corticalis deformans juvenilis
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