A Paget's disease of bone that is characterized by short stature, progressive long bone deformities, fractures, vertebral collapse, skull enlargement, and hyperostosis with progressive deafness and that has_material_basis_in osteoprotegerin deficiency caused by homozygous or compound heterozygous mutation in the TNFRSF11B gene on chromosome 8q24. [ url:https://pubmed.ncbi.nlm.nih.gov/25108083/ ]
Synonyms: Hereditary hyperphosphatasia Paget disease of bone-5 Juvenile Paget disease Hyperostosis corticalis deformans juvenilis Familial osteoectasia