Autosomal recessive osteopetrosis

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.

Also known as: OPTB, autosomal recessive malignant osteopetrosis, autosomal recessive osteopetrosis, autosomal recessive osteopetrosis (disease), infantile malignant osteopetrosis, osteopetrosis (disease), autosomal recessive, malignant osteopetrosis

46 clinical trials for this condition and its sub-types.