| Worth syndrome | |
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| 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]
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.[ citation needed ]
Diagnosis of Worth syndrome can be performed by dual-energy X-ray absorptiometry (DEXA) scan, which measures bone density using X-rays, along with measurement of serum alkaline phosphatase to rule out Van Buchem's disease. Confirmation of LRP5 mutation can be done via genetic testing. [7]
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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]