Disease or Syndrome
osteopetrosis
[ os-tee-oh-pi-troh-sis ]
Subclass of:
Osteosclerosis
Also called:
Marble Bones
Definitions related to osteopetrosis:
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A group of bone disorders caused by autosomal dominant or recessive mutation(s) in multiple genes involved in osteoclast function, including TCIRG1, CLCN7, OSTM1, SNX10, and PLEKHM1. 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 can also be associated with hematopoietic insufficiency, hypocalcemia, disturbed tooth eruption, nerve entrapment syndromes, and growth impairment.NICHD Pediatric TerminologyU.S. National Cancer Institute, 2021
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A rare genetic disorder inherited in an autosomal dominant, autosomal recessive, or X-linked recessive pattern. In the majority of cases it is caused by mutations in the CLCN7, TCIRG1, or IKBKG genes. It is characterized by excessive bone formation due to the failure of osteoclasts to resorb bone. It manifests with deformities, fractures, hepatosplenomegaly, anemia, and extramedullary hematopoiesis.NCI ThesaurusU.S. National Cancer Institute, 2021
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Abnormally increased formation of dense trabecular bone tissue. Despite the increased density of bone tissue, osteopetrotic bones tend to be more fracture-prone than normal.Human Phenotype Ontology (HPO)The Human Phenotype Ontology Project, 2021
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Excessive formation of dense trabecular bone leading to pathological fractures; OSTEITIS; SPLENOMEGALY with infarct; ANEMIA; and extramedullary hemopoiesis (HEMATOPOIESIS, EXTRAMEDULLARY).NLM Medical Subject HeadingsU.S. National Library of Medicine, 2021
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Osteopetroses are familial disorders characterized by increased bone density and skeletal modeling abnormalities.Merck & Co., Inc., 2020
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Osteopetrosis is a clinical syndrome characterized by the failure of osteoclasts to resorb bone. As a consequence, bone modeling and remodeling are impaired.WebMD, 2019
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Osteopetrosis refers to a group of rare, inherited skeletal disorders characterized by increased bone density and abnormal bone growth. Symptoms and severity can vary greatly, ranging from neonatal onset with life-threatening complications (such as bone marrow failure) to the incidental finding of osteopetrosis on X-ray. Depending on...National Center for Advancing Translational Sciences
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Marble bone disease, rare disorder in which the bones become extremely dense, hard, and brittle. The disease progresses as long as bone growth continues; the marrow cavities become filled with compact bone. Because increased bone mass crowds the bone marrow, resulting in a reduced amount of marrow...Encyclopedia Britannica, Inc., 2020
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