LD24.10
category
Osteopetrosis
Definition
Osteopetrosis ('marble bone disease') is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterised 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).
Also indexed as
Albers-Schönberg diseaseAlbers-Schönberg osteopetrosisAlbers-Schönberg syndromeAutosomal dominant osteopetrosis type 1Autosomal dominant osteopetrosis type 2Autosomal recessive malignant osteopetrosisInfantile osteopetrosis with neuroaxonal dysplasiaIntermediate osteopetrosisOsteomesopyknosisOsteopetrosisOsteopetrosis with renal tubular acidosisivory bonesmarble bone diseasemarble bones