Worth syndrome
| Worth syndrome | |
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| Other names: Worth-type autosomal dominant endosteal hyperostosis[1] | |
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| Worth syndrome has an autosomal dominant pattern of inheritance. | |
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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,[2][3]) is a rare autosomal dominant congenital disorder that is caused by a mutation in the LRP5 gene.[4]
Signs and symptoms
It is characterized by increased bone density and benign bony structures on the palate.[2][4][5][6]
Causes
Worth syndrome is caused by a mutation in the LRP5 gene, located on human chromosome 11q13.4.[4][7]
The disorder is inherited in an autosomal dominant fashion.[2]
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
The diagnosis of Worth syndrome can be done via genetic analysis of the LRP5 gene.[1]
Differential diagnosis
The DDx for this condition is based on the following:[1]
- Osteopetrosis
- Progressive diaphyseal dysplasia
- Paget’s disease of the bone
- Pycnodysostosis
Treatment
In terms of management no consensus is currently available[1]
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.[2]
References
- ↑ 1.0 1.1 1.2 1.3 Mattia, Giammarco De; Maffi, Michele; Mosca, Marta; Mazzantini, Maurizio (2023). "LRP5 high bone mass (Worth-type autosomal dominant endosteal hyperostosis): case report and historical review of the literature". Archives of Osteoporosis. 18 (1). doi:10.1007/s11657-023-01319-6. Archived from the original on 26 October 2023. Retrieved 25 October 2023.
- ↑ 2.0 2.1 2.2 2.3 Online Mendelian Inheritance in Man (OMIM): 144750
- ↑ Diseases Database (DDB): 32107
- ↑ 4.0 4.1 4.2 Van Wesenbeeck L, Cleiren E, Gram J, et al. (March 2003). "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. doi:10.1086/368277. PMC 1180253. PMID 12579474.
- ↑ "Worth Syndrome". Archived from the original on January 13, 2010. Retrieved September 12, 2010.
- ↑ "Worth's Syndrome". Medcyclopedia. Archived from the original on May 26, 2011. Retrieved September 12, 2010.
- ↑ Online Mendelian Inheritance in Man (OMIM): 603506
External links
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