A rare genetic disorder inherited in an autosomal dominant, autosomal recessive, or X-linked recessive pattern. In the majority of cases it is caused by mutations in the CLCN7, TCIRG1, or IKBKG genes. It is characterized by excessive bone formation due to the failure of osteoclasts to resorb bone. It manifests with deformities, fractures, hepatosplenomegaly, anemia, and extramedullary hematopoiesis.

Symptoms of Osteopetrosis

The following features are indicative of Osteopetrosis:
  • stunted growth
  • increased likelihood of fractures
  • facial paralysis
  • deafness
  • bone pain
  • hearing impairment

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Common Causes of Osteopetrosis

The following are the most common causes of Osteopetrosis:
  • genetic mutation in the chloride voltage-gated channel 7 (CLCN7) gene
  • genetic mutation in the T cell immune regulator 1 (TCIRG1) gene
  • genetic mutation in the IKBKG gene

Risk Factors for Osteopetrosis

The following factors may increase the likelihood of Osteopetrosis:
  • population of Denmark and Costa Rica

Prevention of Osteopetrosis

Yes, it may be possible to prevent Osteopetrosis. Prevention may be possible by doing the following:
  • genetic counseling

Occurrence of Osteopetrosis

Number of Cases

The following are the number of Osteopetrosis cases seen each year worldwide:
  • Rare between 10K - 50K cases

Common Age Group

Osteopetrosis can occur at any age.

Common Gender

Osteopetrosis can occur in any gender.

Lab Tests and Procedures for Diagnosis of Osteopetrosis

The following lab tests and procedures are used to detect Osteopetrosis:
  • Genetic testing: Confirms the diagnosis and differentiates between different subtypes of osteopetrosis

Doctor for Diagnosis of Osteopetrosis

Patients should visit the following specialists if they have symptoms of Osteopetrosis:
  • Medical Geneticist

Complications of Osteopetrosis if untreated

Yes, Osteopetrosis causes complications if it is not treated. Below is the list of complications and problems that may arise if Osteopetrosis is left untreated:
  • osteomyelitis
  • exposed necrotic bone
  • impaired wound healing

Procedures for Treatment of Osteopetrosis

The following procedures are used to treat Osteopetrosis:
  • Bone marrow transplantation (BMT): Improves severe cases of infantile osteopetrosis associated with bone marrow failure
  • Surgery in Pediatrics: Helps in recovery of fractures

Patient Support for Treatment of Osteopetrosis

The following actions may help Osteopetrosis patients:
  • Nutritional support: Improves growth and enhances responsiveness to other treatment options

Related Topics

Last updated date

This page was last updated on 2/04/2019.
This page provides information for Osteopetrosis.

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