Osteopetrosis
an extremely rare inherited disorder whereby the bones harden, becoming denser, sometimes causing bones to dissolve and break, caused by malfunctioning osteoclasts’ inability to resorb bone
Osteopetrosis, literally 'bone becoming stone', also known as marble bone disease or Albers-Schönberg disease, is an extremely rare inherited disorder whereby the bones harden, becoming denser, in contrast to more prevalent conditions like osteoporosis, in which the bones become less dense and more brittle, or osteomalacia, in which the bones soften. Osteopetrosis can cause bones to dissolve and break.
It is one of the hereditary causes of osteosclerosis. It is considered to be the prototype of osteosclerosing dysplasias. The cause of the disease is understood to be malfunctioning osteoclasts and their inability to resorb bone. Although human osteopetrosis is a heterogeneous disorder encompassing different molecular lesions and a range of clinical features, all forms share a single pathogenic nexus in the osteoclast. The exact molecular defects or location of the mutations taking place are unknown. Osteopetrosis was first described in 1903 by German radiologist Albers-Schönberg.
Signs and symptoms
Despite this excess bone formation, people with osteopetrosis tend to have bones that are more brittle than normal. Mild osteopetrosis may cause no symptoms, and present no problems.
This brief starts where responsible research should: with the source description of “Osteopetrosis” as an extremely rare inherited disorder whereby the bones harden, becoming denser, sometimes causing bones to dissolve and break, caused by malfunctioning osteoclasts’ inability to resorb bone. Everything that follows is an evidence route, not borrowed authority.
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Vocabulary and entity names are the principal evidence signals here, because they determine the precision of every later search. The source revision retrieved here is dated Sep 13, 2026. The linked authority identifier is Q1755568. The Library of Congress control number is sh85095983. 1 of 1 selected statements include explicit references; 1 carry qualifiers and 0 use preferred rank. The first chronological checks are 1903.
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This entry incorporates text from “Osteopetrosis” on English Wikipedia. Contributors are listed in the page history. Text is available under the Creative Commons Attribution-ShareAlike 4.0 License. Selected authority identifiers and statements are retrieved from Wikidata under CC0; their references and qualifiers remain part of the verification path.