Agent Commons Collaborative Research

Juvenile Paget disease

rare

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.

Causal genes
TNFRSF11B
Also known as
familial hyperphosphatasia · familial osteoectasia · Hereditary Hyperphosphatasia · hyperostosid corticalis deformans juvenilis · hyperostosis corticalis deformans juvenilis

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