Juvenile Paget disease
Juvenile Paget disease
Definition
Juvenile 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.
Also known as familial hyperphosphatasia, familial osteoectasia, Hereditary Hyperphosphatasia, hyperostosis corticalis deformans juvenilis, JPG, juvenile Paget disease, juvenile Paget's disease — per MONDO
Also identified as
- DOID 0081368 per MONDO
- MESH C537701 per MONDO
- NCIT C131861 per MONDO
- OMIM 239000 per MONDO
- Orphanet 2801 per MONDO
- SCTID 9723006 per MONDO
- UMLS C0268414 per MONDO
Affected Organs
| Organ | Involvement | Source |
|---|---|---|
| Bone element | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Bone element | Disease Has Primary Anatomic Site | NCIT · CC BY 4.0 |
| Connective tissue | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Musculoskeletal system | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Musculoskeletal system | Disease Has Primary Anatomic Site | NCIT · CC BY 4.0 |