Rare Primary Care News

Disease Profile

Kohler disease

Prevalence
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.

#N/A

US Estimated

Europe Estimated

Age of onset

#N/A

ICD-10

#N/A

Inheritance

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

no.svg

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.

no.svg

X-linked
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.

no.svg

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

no.svg

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.

no.svg

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.

no.svg

Not applicable

no.svg

Other names (AKA)

Kohler's Disease; Kohler's Disease of the Tarsal Navicular; Kohler's Osteochondrosis of the Tarsal Navicular;

Categories

Musculoskeletal Diseases

Summary

Kohler disease is a condition that affects a bone at the arch of the foot called the tarsal navicular bone. X-rays show that this bone is initially compressed and later breaks into pieces before healing and hardening back into bone. It occurs most frequently in children between the ages of 5 and 10 years. Signs and symptoms of the condition include swelling, redness and/or tenderness of the affected foot which can lead to a limp or abnormal gait (style of walking). Although the exact underlying cause of Kohler disease is unknown, some scientists suspect that it may be caused by excessive strain on the tarsal navicular bone and its associated blood vessels before the bone is completely ossified (hardened). The condition typically resolves on its own with or without treatment; however, pain relievers, rest, avoidance of weight-bearing activities, and/or casting may be recommended to help manage symptoms.[1][2]

Symptoms

The signs and symptoms of Kohler disease vary, but may include:[1][2]

  • Swelling of the foot
  • Redness of the affected area
  • Tenderness, particularly along the length of the arch
  • Limp or abnormal gait (style of walking)

Symptoms may worsen if weight is put on the affected foot, which can make walking painful and difficult.[2]

Cause

The exact underlying cause of Kohler disease is unknown. However, some scientists suspect that it may be caused by excessive strain on a certain bone of the foot (tarsal navicular bone) and its associated blood vessels before the bone is completely ossified (hardened).[1]

Bone ossification usually begins at age 18-24 months in girls and at age 24 to 30 months in boys. As the child grows, their foot is required to support more weight. Ossification of the tarsal navicular bone often occurs more slowly than the other bones of the foot. Consequently, surrounding bones may compress it and its blood vessels resulting in osteonecrosis and ischemia (a loss of blood supply).[1]

Diagnosis

A diagnosis of Kohler disease is suspected based on the presence of characteristic signs and symptoms. An x-ray of the foot can be used to confirm the diagnosis and evaluate the progression of the condition.[1][2]

Treatment

Kohler disease typically resolves over time with or without treatment. However, pain relievers, rest and avoidance of weight-bearing activities can help alleviate some of the symptoms. In some cases, a plaster walking cast and/or arch supports may also be recommended.[1][2]

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.
  • 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.
  • 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 Kohler disease. Click on the link to view a sample search on this topic.

References

  1. Bernardo Vargas. Kohler Disease. Medscape Reference. September 2014; https://emedicine.medscape.com/article/1234753-overview.
  2. Kohler Disease. NORD. February 2008; https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/800/viewAbstract.

Rare Primary Care News