Sclerosteosis

Sclerosteosis is an autosomal recessive disorder characterized by bone overgrowth. It was first described in 1958[1][2] but given the current name in 1967.[3] Excessive bone formation is most prominent in the skull, mandible and tubular bones.[1] It can cause facial distortion and syndactyly.[1] Increased intracranial pressure can cause sudden death in patients.[1] 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.[1]

Cause

Sclerosteosis is caused by mutations in the gene that encode for the sclerostin protein.

References
  1. Balemans W, Ebeling M, Patel N, Van Hul E, Olson P, Dioszegi M, Lacza C, Wuyts W, Van Den Ende J, Willems P, Paes-Alves AF, Hill S, Bueno M, Ramos FJ, Tacconi P, Dikkers FG, Stratakis C, Lindpaintner K, Vickery B, Foernzler D, Van Hul W (Mar 2001). "Increased bone density in sclerosteosis is due to the deficiency of a novel secreted protein (SOST)". Human Molecular Genetics. 10 (5): 537–43. doi:10.1093/hmg/10.5.537. PMID 11181578.
  2. Truswell AS (May 1958). "Osteopetrosis with syndactyly; a morphological variant of Albers-Schönberg's disease". The Journal of Bone and Joint Surgery. British Volume. 40-B (2): 209–18. PMID 13539104.
  3. Balemans W, Patel N, Ebeling M, Van Hul E, Wuyts W, Lacza C, Dioszegi M, Dikkers FG, Hildering P, Willems PJ, Verheij JB, Lindpaintner K, Vickery B, Foernzler D, Van Hul W (Feb 2002). "Identification of a 52 kb deletion downstream of the SOST gene in patients with van Buchem disease". Journal of Medical Genetics. 39 (2): 91–7. doi:10.1136/jmg.39.2.91. PMC 1735035. PMID 11836356.
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