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What is Multiple Hereditary Exostoses?

Multiple hereditary exostoses is a rare genetic condition in which an individual develops multiple bone tumors called osteochondromas, often on the growing ends of long bones or on the hips or shoulder blades. These tumors are non-cancerous but can cause growth problems in the affected bones.

Causes of Multiple Hereditary Exostoses

Since multiple hereditary exostoses is a genetic disorder, it can be passed from a parent to his or her children. However, in some cases, the disorder can occur on its own with no previous family history of the condition.

Symptoms of Multiple Hereditary Exostoses

Symptoms of multiple hereditary exostoses varies from individual to individual, depending upon the size and location of the tumor. Tumors associated with multiple hereditary exostoses can cause the following symptoms which include:

  • Lack of growth
  • Bone pain
  • Loss of sensation or movement in the limbs
  • Development of cancer over time, in rare instances

Diagnosis of Multiple Hereditary Exostoses

Diagnosis involves a complete medical history and a full physical examination. Your doctor may order other procedures which include:

  • X-ray
  • MRI
  • CT scan
  • Bone scans

Treatment for Multiple Hereditary Exostoses

Osteochondromas that are not painful often do not require any treatment. Genetic counseling may be recommended for the affected individuals and their families. Surgical removal of the tumors may be an option if the tumors are causing pain, growth, or mobility issues.

Surgery is required to improve movement, restore normal circulation, relieve pain, or for cosmetic reasons. Malignant degeneration of the tumor is treated surgically, often in combination with chemotherapy and radiation therapy. Monitoring the size of the affected bones by annual scans to screen for malignant degeneration is sometimes recommended. Other treatment options include symptomatic and supportive care.

  • American Osteopathic Association
  • Washington University in St. Louis
  • Inspira Health
  • Paley
  • Midwestern University Chicago College of Osteopathic Medicine
  • AOBOS
  • MHE Research Foundation
  • Limb Lengthening and Reconstruction Society
  • David S. Feldman, MD