Worth syndrome

Worth syndrome
Worth syndrome has an autosomal dominant pattern of inheritance.

Worth syndrome, also known as benign form of Worth hyperostosis corticalis generalisata with torus platinus, autosomal dominant osteosclerosis, autosomal dominant endosteal hyperostosis or Worth disease,[1][2] is a rare autosomal dominant congenital disorder that is caused by a mutation in the LRP5 gene.[3] It is characterized by increased bone density and benign bony structures on the palate.[1][3][4][5]

  1. ^ a b Online Mendelian Inheritance in Man (OMIM): 144750
  2. ^ Diseases Database (DDB): 32107
  3. ^ a b Van Wesenbeeck L, Cleiren E, Gram J, et al. (March 2003). "Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density" (Free full text). Am. J. Hum. Genet. 72 (3): 763–771. doi:10.1086/368277. PMC 1180253. PMID 12579474.
  4. ^ "Worth Syndrome". Retrieved September 12, 2010.
  5. ^ "Worth's Syndrome". Medcyclopedia. Retrieved September 12, 2010.