/autosomal recessive osteopetrosis

autosomal recessive osteopetrosis

Rare Disease

MONDO:0019026

Also Known As

OPTBautosomal recessive malignant osteopetrosisautosomal recessive osteopetrosisautosomal recessive osteopetrosis (disease)infantile malignant osteopetrosisosteopetrosis (disease), autosomal recessivemalignant osteopetrosis

Definition

An autosomal recessive form of osteopetrosis caused by mutation(s) in at least 8 genes related to osteoclast function. This condition is characterized by the failure of osteoclasts to resorb bone, resulting in impaired bone modeling/remodeling, and skeletal fragility despite increased bone mass; it is also associated with hematopoietic insufficiency, hypocalcemia, disturbed tooth eruption, nerve entrapment syndromes, and growth impairment. Some cases are also associated with progressive neurological deterioration.