Worth syndrome

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Worth syndrome
Other names: Worth-type autosomal dominant endosteal hyperostosis[1]
Autosomal dominant - en.svg
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,[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

File:Autosomaldominantendosteal hyperostosis.jpg
X-ray image of femora showed thick/dense, endosteal hyperostosis more marked at the mid-diaphyses

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. 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. 2.0 2.1 2.2 2.3 Online Mendelian Inheritance in Man (OMIM): 144750
  3. Diseases Database (DDB): 32107
  4. 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.
  5. "Worth Syndrome". Archived from the original on January 13, 2010. Retrieved September 12, 2010.
  6. "Worth's Syndrome". Medcyclopedia. Archived from the original on May 26, 2011. Retrieved September 12, 2010.
  7. Online Mendelian Inheritance in Man (OMIM): 603506

External links

Classification
External resources