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Disease Profile

Freiberg’s 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.

Unknown

Age of onset

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ICD-10

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Inheritance

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

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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

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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.

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

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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.

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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.

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Not applicable

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Other names (AKA)

Osteochondrosis of the metatarsal head, usually the second; Freiberg's infraction; Kohler's second disease;

Categories

Musculoskeletal Diseases

Summary

Freiberg's disease is rare condition that primarily affects the second or third metatarsal (the long bones of the foot). Although people of all ages can be affected by this condition, Freiberg's disease is most commonly diagnosed during adolescence through the second decade of life. Common signs and symptoms include pain and stiffness in the front of the foot, which often leads to a limp. Affected people may also experience swelling, limited range of motion, and tenderness of the affected foot. Symptoms are generally triggered by weight-bearing activities, including walking. The exact underlying cause of Freiberg's disease is currently unknown. Treatment depends on many factors, including the severity of condition; the signs and symptoms present; and the age of the patient.[1][2][3]

Symptoms

Common signs and symptoms of Freiberg's disease include pain and stiffness in the front of the foot, which often leads to a limp. People with this condition may also experience swelling, limited range of motion, and tenderness of the affected foot. Some people describe the sensation of walking on something hard, like a stone or a marble. Symptoms are generally triggered by weight-bearing activities, including walking.[1][2][3]

Occasionally, people with Freiberg's disease have no obvious symptoms of the condition, with changes noted only on X-rays taken for other purposes. Whether these people will later develop symptoms is not known.[1]

Cause

The exact cause of Freiberg's disease is poorly understood. Some scientists believe that it is a multifactorial condition which is likely associated with the effects of multiple genes in combination with lifestyle and environmental factors. However, most current theories are centered on whether the triggering event is predominantly traumatic (injury-related) or vascular (consistent with avascular necrosis an injury to the blood supply of the affected part of the foot).[1][3]

Diagnosis

A diagnosis of Freiberg's disease is often suspected based on the presence of characteristic signs and symptoms. An X-ray, magnetic resonance imaging (MRI), and/or bone scan can then be ordered to confirm the diagnosis. Other testing such as laboratory studies may also be recommended to rule out other conditions that cause similar features.[1][3]

Treatment

The treatment of Freiberg's disease depends on many factors, including the severity of condition; the signs and symptoms present; and the age of the patient. The primary goal of therapy is to rest the joint and reduce pain and swelling. A more conservative treatment approach is typically attempted initially which may include modification of activities with different types of casts, crutches and/or shoe inserts, as needed. Medications such as nonsteroidal anti-inflammatory drugs (NSAIDs) may be recommended to manage pain.[1][2][3]

If other treatments are not effective, surgery may be necessary. Medscape Reference's Web site offers more specific information regarding the different surgical procedures used to treat Freiberg's disease. Please click on the link to access the resource.

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

  • The Merck Manual provides information on this condition for patients and caregivers.

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 Merck Manual for health care professionals provides information on Freiberg's disease.
  • 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.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Freiberg's disease. Click on the link to view a sample search on this topic.

References

  1. Shayne D Fehr, MD, FAAP. Freiberg Disease. Medscape Reference. March 2015; https://emedicine.medscape.com/article/1236085-overview.
  2. Shane A, Reeves C, Wobst G, Thurston P. Second metatarsophalangeal joint pathology and freiberg disease. Clin Podiatr Med Surg. July 2013; 30(3):313-325.
  3. Cerrato RA. Freiberg's disease. Foot Ankle Clin. December 2011; 16(4):647-658.

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