Paget disease of bone 5

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 b

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.

Signs and symptoms

• Hearing impairment
• Short stature
• Elevated circulating alkaline phosphatase concentration
• Hypotonia
• Short humerus
• Relative macrocephaly
• Lateral femoral bowing
• Failure to thrive
• Osteopenia
• Increased urine deoxypyridinoline level

Also known as: Familial osteoectasia; Hereditary hyperphosphatasia; Hyperostosis corticalis deformans juvenilis; Juvenile Paget disease; Paget's disease of bone 5