Genetic diseases of bones and joints

Research output: Contribution to journalArticle

Abstract

Genetic factors play roles in many diseases. Often these factors are ill defined and unpredictable. Other diseases are caused by specific single gene mutations and are passed to offspring in Mendelian inheritance patterns. There are over 5000 documented Mendelian disorders; over 500 of these affect bones and joints. Some of these single gene disorders affect many tissues, and the skeletal system is one of many organ systems involved. The surgical pathologist must often diagnose these disorders. Important examples are neurofibromatosis, Gaucher's disease, and alkaptonuria. Other single gene disorders almost exclusively affect the skeleton. These disorders are the skeletal dysplasias and 372 have been documented. These disorders are classified using radiographic, clinical, and molecular data. The most common dysplasias are osteogenesis imperfecta, achondroplasia, and osteopetrosis. The surgical pathologist usually does not play a role in the diagnosis of skeletal dysplasias. However, histologic studies often elucidate the pathophysiologic basis of these diseases and proper collection of tissues is important for the evolving understanding of the molecular basis of these disorders.

Original languageEnglish (US)
Pages (from-to)26-36
Number of pages11
JournalSeminars in Diagnostic Pathology
Volume28
Issue number1
DOIs
StatePublished - Feb 2011

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Inborn Genetic Diseases
Joints
Bone and Bones
Alkaptonuria
Achondroplasia
Genes
Osteopetrosis
Osteogenesis Imperfecta
Gaucher Disease
Inheritance Patterns
Neurofibromatoses
Skeleton
Mutation
Pathologists

Keywords

  • Single gene disorders
  • Skeletal dysplasia

ASJC Scopus subject areas

  • Pathology and Forensic Medicine

Cite this

Genetic diseases of bones and joints. / McCarthy, Edward F.

In: Seminars in Diagnostic Pathology, Vol. 28, No. 1, 02.2011, p. 26-36.

Research output: Contribution to journalArticle

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