Worth syndrome

Worth syndrome
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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,<ref name=omim>Online Mendelian Inheritance in Man (OMIM) 144750 </ref><ref name=ddb>Template:DiseasesDB</ref> is a rare autosomal dominant congenital disorder that is caused by a mutation in the LRP5 gene.<ref name=wad/> It is characterized by increased bone density and benign bony structures on the palate.<ref name=omim/><ref name=wad>,

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Cause and Genetics

Worth syndrome is caused by a mutation in the LRP5 gene, located on human chromosome 11q13.4.<ref name=wad/><ref>Online Mendelian Inheritance in Man (OMIM) 603506 </ref> The disorder is inherited in an autosomal dominant fashion.<ref name=omim/> This indicates that the defective gene responsible for a disorder is located on an autosome (chromosome 11 is an autosome), and only one copy of the defective gene is sufficient to cause the disorder, when inherited from a parent who has the disorder.

History

The condition was first reported by H. M. Worth in 1966. In 1977, two doctors, R.J. Gorlin and L. Glass, distinguished the syndrome from van Buchem disease. In 1987 a group of Spanish doctors pointed out that the condition may not be benign, and may sometimes cause nerve damage.<ref name=omim/>

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