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Hereditary Multiple Osteochondromas

Abstract

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NORD is very grateful to Wim Wuyts, PhD, Department of Medical Genetics, University and University Hospital of Antwerp, Belgium, for assistance in the preparation of this report.

Synonyms of Hereditary Multiple Osteochondromas

  • diaphyseal aclasis
  • EXT
  • external chondromatosis syndrome
  • hereditary multiple exostoses
  • multiple cartilaginous exostoses
  • multiple exostoses
  • multiple exostoses syndrome
  • multiple osteochondromas
  • multiple osteochondromatosis

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Summary
Hereditary multiple osteochondromas (HMO) is a rare genetic disorder characterized by multiple benign (noncancerous) bone tumors that are covered by cartilage (osteochondromas), often on the growing end (metaphysis) of the long bones of the legs, arms, and digits. These osteochondromas usually continue to grow until shortly after puberty and may lead to bone deformities, skeletal abnormalities, short stature, nerve compression and reduced range of motion. Hereditary multiple osteochondromas is inherited as an autosomal dominant genetic condition and is associated with abnormalities (mutations) in the EXT1or EXT2 gene.

Introduction
Hereditary multiple osteochondromas was formerly called hereditary multiple exostoses.

Organizations related to Hereditary Multiple Osteochondromas

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