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osteosclerosis

Etiology

- proximal symphalangism (SYM1) and multiple-synostoses syndrome (SYNS1) are caused by mutations in NOG, the gene encoding noggin

- autosomal dominant stapes ankylosis with broad thumbs and toes, hyperopia, and skeletal anomalies are caused by mutations in NOG, the gene encoding noggin (12089654)

- lethal osteosclerotic bone dysplasia (Raine syndrome) (MIM.259775) (17924334)

  • germline mutations in FAM20C

See also

- osseous lesions
- osseous anomalies