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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.

0 trials tagged with this condition →

Autosomal recessive osteopetrosis 1 1 trial
Autosomal recessive osteopetrosis 2 1 trial
Autosomal recessive osteopetrosis 3 0 trials
Autosomal recessive osteopetrosis 4 0 trials
Autosomal recessive osteopetrosis 5 0 trials
Autosomal recessive osteopetrosis 6 0 trials
Autosomal recessive osteopetrosis 7 0 trials
Autosomal recessive osteopetrosis 8 0 trials
Leukocyte adhesion deficiency 3 0 trials
Osteopetrosis, autosomal recessive 9 0 trials