Worth syndrome
(Redirected from Hyperphosphatasemia tarda)
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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,[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]
Cause and Genetics[edit | edit source]
Worth syndrome is caused by a mutation in the LRP5 gene, located on human chromosome 11q13.4.[3][6] The disorder is inherited in an autosomal dominant fashion.[1] 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.
Diagnosis[edit | edit source]
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Treatment[edit | edit source]
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History[edit | edit source]
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.[1]
References[edit | edit source]
- ↑ 1.0 1.1 1.2 1.3 Online Mendelian Inheritance in Man (OMIM) 144750
- ↑ DDB 32107
- ↑ 3.0 3.1 3.2
- ↑ "Worth Syndrome". Retrieved September 12, 2010.
- ↑ "Worth's Syndrome". Medcyclopedia. Retrieved September 12, 2010.
- ↑ Online Mendelian Inheritance in Man (OMIM) 603506
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