Orthopaedic-Related Issues with Genetic Disorders

  • António Robalo Correia
  • Miguel Botton
  • Manuel Cassiano NevesEmail author
Part of the Orthopaedic Study Guide Series book series (ORTHSTUDY)


According to the literature, genetic conditions are present in more than 50% of the children admitted in the paediatric orthopaedic departments in the United States. Although some conditions like achondroplasia or osteogenesis imperfecta seem to be well known for others, the genes responsible for Mendelian inherited orthopaedic conditions have been more indefinable. In any case it is fundamental for the orthopaedic surgeon in training to be familiar with the most common genetic disorders with orthopaedic-related issues. Although in some musculoskeletal conditions the clinical diagnosis is fundamental and the genetic tests will not add too much for the diagnosis, it is necessary to understand the underline problem, to be familiar with the natural history, and to be able to refer to a geneticist when appropriate.

In the last years we have seen enormous advances in the gene sequencing with the identifications of numerous genetic conditions that help us to understand the role of genetic alterations in the development of the muscle skeletal diseases. The Online Mendelian Inheritance in Man—OMIM—is a comprehensive, authoritative compendium of human genes and genetic phenotypes that is freely available and will help the orthopaedic surgeon to get familiar with these conditions. The full-text, referenced overviews in OMIM contain information on all known Mendelian disorders and over 15,000 genes.

In the text below it is described, in a succinct way, the most common genetic disorders affecting the muscle-skeletal system.


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Copyright information

© Springer Nature Switzerland AG 2019

Authors and Affiliations

  • António Robalo Correia
    • 1
  • Miguel Botton
    • 2
  • Manuel Cassiano Neves
    • 2
    Email author
  1. 1.Department of Orthopaedic SurgeryHospital José Joaquim FernandesBejaPortugal
  2. 2.Hospital CUF DescobertasLisbonPortugal

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