Catalog
Osteopetrosis
Link to WHO Definition
Osteopetrosis – http://id.who.int/icd/entity/1498426606
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).
Parents
Children
- Osteopetrosis with renal tubular acidosis
- Autosomal recessive malignant osteopetrosis
- Infantile osteopetrosis with neuroaxonal dysplasia
- Autosomal dominant osteopetrosis type 1
- Autosomal dominant osteopetrosis type 2
- OL-EDA-ID syndrome
- Osteomesopyknosis
- Intermediate osteopetrosis
- Osteopetrosis - hypogammaglobulinaemia