Rare Nephrology News

Disease Profile

Legg-Calve-Perthes disease

Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.


US Estimated

Europe Estimated

Age of onset






Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.


Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.


dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.


recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.


Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.


Not applicable


Other names (AKA)

Perthes disease; Legg-Calve-Perthes syndrome; LCPD;


Congenital and Genetic Diseases; Connective tissue diseases; Musculoskeletal Diseases


Legg-Calve-Perthes disease (LCPD) occurs when blood supply to the ball of the thighbone in the hip (femoral head) is disrupted. Without an adequate blood supply, the bone cells die.[1] LCPD usually occurs in children between the ages of 4 and 10.[2] Early symptoms may include limping; pain in the hip, thigh or knee; and reduced range of hip motion.[3] Later in the disease course, there may be leg length discrepancy (one leg longer than the other) and wasting of the muscles around the hip. The condition can last for several years before new bone formation (re-ossification) and eventual healing occurs.[3] Some people with LCPD go on to develop degenerative arthritis in adulthood.[2][4]

The underlying cause of LCPD is often not known. Sometimes it results from a slipped capital femoral epiphysis, trauma, steroid use, sickle-cell crisis, toxic synovitis, or congenital hip dysplasia.[2] It usually is not caused by genetic factors, but a few familial cases with autosomal dominant inheritance have been reported. In a small percentage of cases, mutations in the COL2A1 gene were found to be responsible.[5]

Treatment aims to keep the thigh bone inside the hip socket. Treatment options may include rest or medication for pain; physical therapy; using a brace; or surgery.[3][4]


This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
80%-99% of people have these symptoms
Abnormality of the dentition
Abnormal dentition
Abnormal teeth
Dental abnormality

[ more ]

Joint pain
Avascular necrosis
Death of bone due to decreased blood supply
Cartilage destruction
Delayed skeletal maturation
Delayed bone maturation
Delayed skeletal development

[ more ]

Joint dislocation
Joint dislocations
Recurrent joint dislocations

[ more ]

Short stature
Decreased body height
Small stature

[ more ]

Skeletal muscle atrophy
Muscle degeneration
Muscle wasting

[ more ]

Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance
Avascular necrosis of the capital femoral epiphysis
Multifactorial inheritance


Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.


    Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

    Organizations Supporting this Disease

      Learn more

      These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

      Where to Start

        In-Depth Information

        • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
        • MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
        • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
        • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
        • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
        • PubMed is a searchable database of medical literature and lists journal articles that discuss Legg-Calve-Perthes disease. Click on the link to view a sample search on this topic.


          1. Perthes Disease. American Academy of Orthopaedic Surgeons. May, 2015; https://orthoinfo.aaos.org/topic.cfm?topic=A00070.
          2. George D Harris. Legg-Calve-Perthes Disease. Medscape Reference. March 4, 2015; https://emedicine.medscape.com/article/1248267-overview.
          3. Ola Wiig. Legg-Calve-Perthes Disease. Orphanet. 2009; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2380.
          4. Legg-Calve-Perthes disease. MedlinePlus. July 10 2015; https://www.nlm.nih.gov/medlineplus/ency/article/001264.htm.
          5. Legg-Calve-Perthes disease. Genetics Home Reference. September, 2014; https://ghr.nlm.nih.gov/condition/legg-calve-perthes-disease#genes.
          6. Al-Omran AK and Sadat-Ali M. Legg-Calve-Perthes disease in two generations of male family members: a case report. J Orthop Surg (Hong Kong). August 2013; 21(2):258-61. https://www.ncbi.nlm.nih.gov/pubmed/24014797.
          7. Kim Y-J. Legg Calve Perthes Disease. National Organization for Rare Disorders (NORD). November 18 2015; https://rarediseases.org/rare-diseases/legg-calve-perthes-disease/.

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