| Worth syndrome | |
|---|---|
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| Worth syndrome has an autosomal dominant pattern of inheritance. |
Worth syndrome, also known asbenign form of Worth hyperostosis corticalis generalisata with torus platinus,autosomal dominant osteosclerosis,autosomal dominant endosteal hyperostosis orWorth disease,[1][2] is a rareautosomaldominantcongenital disorder that is caused by a mutation in theLRP5 gene.[3] It is characterized by increasedbone density andbenign bony structures on thepalate.[1][3][4][5]
Worth syndrome is caused by amutation in theLRP5 gene, located on humanchromosome11q13.4.[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 anautosome (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 bydual-energy X-ray absorptiometry (DEXA) scan, which measures bone density usingX-rays, along with measurement of serumalkaline phosphatase to rule outVan Buchem's disease. Confirmation of LRP5 mutation can be done viagenetic testing.[7]
The condition was first reported byH. M. Worth in 1966. In 1977, twodoctors, R.J. Gorlin and L. Glass, distinguished the syndrome from van Buchem disease. In 1987 a group ofSpanish doctors pointed out that the condition may not bebenign, and may sometimes causenerve damage.[1]