Medicine:Worth syndrome
| 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]
Causes
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.[7]
Diagnosis
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.[8]
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.[1]
References
- ↑ 1.0 1.1 1.2 1.3 Online Mendelian Inheritance in Man (OMIM) 144750
- ↑ DDB 32107
- ↑ 3.0 3.1 3.2 "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. March 2003. doi:10.1086/368277. PMID 12579474.
- ↑ "Worth Syndrome". http://www.wrongdiagnosis.com/w/worth_syndrome/intro.htm.
- ↑ "Worth's Syndrome". Medcyclopedia. http://www.medcyclopaedia.com/library/topics/volume_iii_1/w/worths_syndrome.aspx.
- ↑ Online Mendelian Inheritance in Man (OMIM) 603506
- ↑ De Mattia, Giammarco; Maffi, Michele; Mosca, Marta; Mazzantini, Maurizio (2023-09-02). "LRP5 high bone mass (Worth-type autosomal dominant endosteal hyperostosis): case report and historical review of the literature" (in en). Archives of Osteoporosis 18 (1): 112. doi:10.1007/s11657-023-01319-6. ISSN 1862-3514. PMID 37659026. PMC 10474981. https://doi.org/10.1007/s11657-023-01319-6.
- ↑ De Mattia, Giammarco; Maffi, Michele; Mosca, Marta; Mazzantini, Maurizio (2023-09-02). "LRP5 high bone mass (Worth-type autosomal dominant endosteal hyperostosis): case report and historical review of the literature". Archives of Osteoporosis 18 (1): 112. doi:10.1007/s11657-023-01319-6. ISSN 1862-3514. PMID 37659026. PMC 10474981. https://pmc.ncbi.nlm.nih.gov/articles/PMC10474981/.
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