Genetic skeletal dysplasias: a guide to diagnosis and management

Mathew David Sewell, Amanjot Chahal, Nawfal Al-Hadithy, Gordon W. Blunn, Sean Molloy, Aresh Hashemi-Nejad

Research output: Contribution to journalArticlepeer-review


The skeletal dysplasias are a large, heterogeneous group of genetic disorders characterised by abnormal growth, development and remodelling of the bones and cartilage that comprise the human skeleton. They typically present with disproportionate short stature in childhood, or premature osteoarthritis in adulthood. The latest classification lists 456 disorders under 40 group headings differentiated by specific clinical, radiographic and molecular criteria. Establishing an accurate diagnosis is important to predict final height, expected complications and treatment, and for specific genetic and psychological counselling. In addition to the skeletal disorder, individuals frequently demonstrate abnormalities of hearing, vision, neurological, pulmonary, renal or cardiac function that require multidisciplinary assessment. This review provides a guide to diagnosis and discusses management principles for the common limb and spinal abnormalities that affect quality of life for the majority.

Original languageEnglish
Pages (from-to)575-590
Number of pages16
JournalJournal of Back and Musculoskeletal Rehabilitation
Issue number3
Publication statusPublished - 1 Sept 2015


  • bone diseases, developmental
  • humans
  • quality of life
  • spinal diseases
  • skeletal dysplasia
  • chondrodysplasias
  • management
  • genetics
  • diagnosis
  • spine


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