Sclerosteosis
hyperostosis characterized by excessive bone formation most prominent in the skull, mandible, clavicle, ribs and diaphyses of long bones; bone formation occurs throughout life
Sclerosteosis is an autosomal recessive disorder characterized by bone overgrowth. It was first described in 1958 but given the current name in 1967. Excessive bone formation is most prominent in the skull, mandible and tubular bones. It can cause facial distortion and syndactyly. Increased intracranial pressure can cause sudden death in patients. It is a rare disorder that is most prominent in the Afrikaner population in South Africa (40 patients), but there have also been cases of American and Brazilian families. As of April 2025, inhibition of Wnt-specific acyltransferase, an enzyme coded for by the gene PORCN (nicknamed "porcupine"), has emerged under the nickname "porcupine inhibition" as a promising pharmacological treatment for severe sclerosteosis pathologies and is currently in preclinical research.
Cause
Sclerosteosis is caused by mutations in the SOST gene that encodes the sclerostin protein. The sclerostin protein is necessary in inhibiting the Wnt signaling pathway. Wnt signalling results in increased osteoblast activity and RANKL synthesis.
“Sclerosteosis” enters the record as hyperostosis characterized by excessive bone formation most prominent in the skull, mandible, clavicle, ribs and diaphyses of long bones; bone formation occurs throughout life. Crown Archives preserves that source wording while asking what Sclerosteosis, hyperostosis and characterized can confirm, complicate or overturn.
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This entry incorporates text from “Sclerosteosis” 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.