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URL of this page: https://medlineplus.gov/genetics/condition/legg-calve-perthes-disease/

Legg-Calvé-Perthes disease

Description

Legg-Calvé-Perthes disease is a bone disorder that affects the hips. People with this condition often have pain in the hip joint and restricted movement. Usually, the condition involves only the right hip or only the left hip, but 10 to 20 percent of affected individuals have signs and symptoms in both hips. Legg-Calvé-Perthes disease begins in childhood, typically between 3 and 12 years of age. Boys are three to five times more likely than girls to be affected by Legg-Calvé-Perthes disease.

Legg-Calvé-Perthes disease interrupts the blood supply to the upper end of the thigh bone (femoral head). The disruption in blood flow causes bone cells to die. As a result, the femoral head can become misshapen and may no longer move easily within the hip socket. This can cause hip or knee pain and limit the range of motion in the leg. The bone eventually begins to heal through a normal process called bone remodeling, by which old bone is removed and replaced by new bone. This cycle of breakdown and healing can recur multiple times. If the damage to the femoral head does not heal properly, one leg may become shorter than the other.

Without proper treatment, some people with Legg-Calvé-Perthes disease will develop a painful joint disorder called osteoarthritis, which may require a hip replacement later in life.

Frequency

The number of people who receive a diagnosis of Legg-Calvé-Perthes disease varies by geographic area and by population. As many as 29 in 100,000 children under the age of 15 are diagnosed with this condition. This condition is most common among white people.

Causes

The exact cause of Legg-Calvé-Perthes disease is not known. Some researchers have suggested that the condition is multifactorial, which means it is caused by a combination of genetic, lifestyle, environmental, and metabolic factors. Joint stress, blood clotting abnormalities, malnutrition, obesity, and exposure to cigarette smoke may all contribute to the development of Legg-Calvé-Perthes disease.

Some cases of Legg-Calvé-Perthes disease were previously thought to be caused by variants (also called mutations) in the COL2A1 gene. This gene provides instructions for making a protein that forms type II collagen, which is found in connective tissues. Many researchers today, however, do not believe that variants in the COL2A1 gene cause Legg-Calvé-Perthes disease. Studies are investigating the potential causes of Legg-Calvé-Perthes disease, including the role genetics might play in this disorder. 

Inheritance

In most cases, the cause of Legg-Calvé-Perthes disease is not known. When the condition runs in families, it typically follows an autosomal dominant pattern of inheritance.

Other Names for This Condition

  • Aseptic necrosis of the capital femoral epiphysis
  • Coxa plana
  • LCP
  • LCPD
  • Legg-Perthes disease
  • Osteochondrosis of the capital femoral epiphysis
  • Perthes disease

Additional Information & Resources

Genetic Testing Information

Genetic and Rare Diseases Information Center

Patient Support and Advocacy Resources

Clinical Trials

Catalog of Genes and Diseases from OMIM

Scientific Articles on PubMed

References

  • Chaudhry S, Phillips D, Feldman D. Legg-Calve-Perthes disease: an overview with recent literature. Bull Hosp Jt Dis (2013). 2014;72(1):18-27. Citation on PubMed
  • Gregersen PA, Savarirayan R. Type II Collagen Disorders Overview. 2019 Apr 25 [updated 2024 Oct 24]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. Available from http://www.ncbi.nlm.nih.gov/books/NBK540447/ Citation on PubMed
  • Kannu P, Irving M, Aftimos S, Savarirayan R. Two novel COL2A1 mutations associated with a Legg-Calve-Perthes disease-like presentation. Clin Orthop Relat Res. 2011 Jun;469(6):1785-90. doi: 10.1007/s11999-011-1850-x. Epub 2011 Mar 26. Citation on PubMed or Free article on PubMed Central
  • Kenet G, Ezra E, Wientroub S, Steinberg DM, Rosenberg N, Waldman D, Hayek S. Perthes' disease and the search for genetic associations: collagen mutations, Gaucher's disease and thrombophilia. J Bone Joint Surg Br. 2008 Nov;90(11):1507-11. doi: 10.1302/0301-620X.90B11.20318. Citation on PubMed
  • Lindblad M, Bladh M, Bjornsson-Hallgren H, Sydsjo G, Johansson T. No correlation to collagen synthesis disorders in patients with Perthes' disease: a nationwide Swedish register study of 3488 patients. BMC Musculoskelet Disord. 2024 Jan 9;25(1):42. doi: 10.1186/s12891-023-07161-8. Citation on PubMed
  • Mills S, Burroughs KE. Legg-Calve-Perthes Disease. 2023 Jul 10. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan-. Available from http://www.ncbi.nlm.nih.gov/books/NBK513230/ Citation on PubMed
  • Miyamoto Y, Matsuda T, Kitoh H, Haga N, Ohashi H, Nishimura G, Ikegawa S. A recurrent mutation in type II collagen gene causes Legg-Calve-Perthes disease in a Japanese family. Hum Genet. 2007 Jun;121(5):625-9. doi: 10.1007/s00439-007-0354-y. Epub 2007 Mar 30. Citation on PubMed
  • Mortier GR, Cohn DH, Cormier-Daire V, Hall C, Krakow D, Mundlos S, Nishimura G, Robertson S, Sangiorgi L, Savarirayan R, Sillence D, Superti-Furga A, Unger S, Warman ML. Nosology and classification of genetic skeletal disorders: 2019 revision. Am J Med Genet A. 2019 Dec;179(12):2393-2419. doi: 10.1002/ajmg.a.61366. Epub 2019 Oct 21. Citation on PubMed
  • Park KW, Rejuso CA, Cho WT, Song HR. Timing of premature physeal closure in Legg-Calve-Perthes Disease. Int Orthop. 2014 Oct;38(10):2137-42. doi: 10.1007/s00264-014-2394-y. Epub 2014 Jun 12. Citation on PubMed
  • Pavone V, Chisari E, Vescio A, Lizzio C, Sessa G, Testa G. Aetiology of Legg-Calve-Perthes disease: A systematic review. World J Orthop. 2019 Mar 18;10(3):145-165. doi: 10.5312/wjo.v10.i3.145. eCollection 2019 Mar 18. Citation on PubMed
  • Rodriguez-Olivas AO, Hernandez-Zamora E, Reyes-Maldonado E. Legg-Calve-Perthes disease overview. Orphanet J Rare Dis. 2022 Mar 15;17(1):125. doi: 10.1186/s13023-022-02275-z. Citation on PubMed
  • Su P, Li R, Liu S, Zhou Y, Wang X, Patil N, Mow CS, Mason JC, Huang D, Wang Y. Age at onset-dependent presentations of premature hip osteoarthritis, avascular necrosis of the femoral head, or Legg-Calve-Perthes disease in a single family, consequent upon a p.Gly1170Ser mutation of COL2A1. Arthritis Rheum. 2008 Jun;58(6):1701-6. doi: 10.1002/art.23491. Citation on PubMed
  • Unger S, Ferreira CR, Mortier GR, Ali H, Bertola DR, Calder A, Cohn DH, Cormier-Daire V, Girisha KM, Hall C, Krakow D, Makitie O, Mundlos S, Nishimura G, Robertson SP, Savarirayan R, Sillence D, Simon M, Sutton VR, Warman ML, Superti-Furga A. Nosology of genetic skeletal disorders: 2023 revision. Am J Med Genet A. 2023 May;191(5):1164-1209. doi: 10.1002/ajmg.a.63132. Epub 2023 Feb 13. Citation on PubMed

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