ICD-11 definition : Osteopetrosis ('marble bone disease') is a descriptive term that refers to a group
of rare, heritable disorders of the skeleton characterized by increased bone density
on radiographs. Osteopetrotic conditions vary greatly in their presentation and severity,
ranging from neonatal onset with life-threatening complications such as bone marrow
failure (as in classical or 'malignant' autosomal recessive osteopetrosis) to the
incidental finding of osteopetrosis on radiographs (e.g. osteopoikilosis).;
ICD-11 synonym : marble bones; ivory bones; marble bone disease;
Osteopetrosis ('marble bone disease') is a descriptive term that refers to a group
of rare, heritable disorders of the skeleton characterized by increased bone density
on radiographs. Osteopetrotic conditions vary greatly in their presentation and severity,
ranging from neonatal onset with life-threatening complications such as bone marrow
failure (as in classical or 'malignant' autosomal recessive osteopetrosis) to the
incidental finding of osteopetrosis on radiographs (e.g. osteopoikilosis).