Osteopetrosis PatientPlus

Description: Synonyms: marble bones disease, Albers-Schonberg disease
Osteopetrosis is a clinical syndrome characterised by the failure of osteoclasts to resorb bone, leading to impairment of bone modelling and remodelling. This results in skeletal fragility despite increased bone mass, and it may also cause bone marrow failure, disturbed tooth eruption, nerve entrapment syndromes and growth impairment.
Osteopetrosis is a heterogeneous disorder encompassing different molecular lesions and a range of clinical features. Two main forms exist:
Recessively inherited severe osteopetrosis
Dominantly inherited mild form