Juvenile Paget Disease is a hereditary defect of bone that results in a greatly accelerated bone turnover.
Synonym: idiopathic or hereditary hyperphosphatasia
Inheritance: autosomal recessive
Gene affected: TNFRSF11B
Chormosome: 8q24
Protein affected: osteoprotegerin (in the TNF-receptor superfamily)
Mutations: deletion or loss of function
Clinical features:
(1) normal development at birth
(2) progressive deformities of long bones
(3) kyphoscoliosis
(4) impaired growth
(5) pathologic fractures
(6) massive thickening of the calvarium
(7) sensorineural hearing loss
(8) chest wall deformity resulting in restrictive lung disease
(9) blindness secondary to retinopathy and/or optic neuropathy
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Specialty: Surgery, orthopedic
