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Down syndrome in children: the role of the orthopaedic surgeon

Michelle S Caird1, Brian P D Wills, John P Dormans

  • 1Department of Orthopaedic Surgery, University of Michigan Medical School, Ann Arbor, USA.

The Journal of the American Academy of Orthopaedic Surgeons
|October 13, 2006
PubMed

Insights

Down syndrome (trisomy 21) frequently causes musculoskeletal issues due to hypotonia and laxity. This can lead to cervical instability and other orthopedic conditions requiring careful management.

Area of Science:

  • Genetics and Human Biology
  • Orthopedics
  • Developmental Pediatrics

Background:

  • Down syndrome, caused by trisomy 21, is a common chromosomal abnormality.
  • Patients exhibit characteristic features, variable cognitive abilities, and associated medical conditions.
  • Musculoskeletal manifestations are prevalent, often stemming from hypotonia, joint hypermobility, and ligamentous laxity.

Purpose of the Study:

  • To review the common orthopedic manifestations in patients with Down syndrome.
  • To discuss the challenges in managing these conditions, particularly cervical instability.
  • To highlight the controversies surrounding screening methods for atlanto-occipital and cervical instability.

Main Methods:

  • Literature review of orthopedic conditions associated with Down syndrome.
  • Analysis of the impact of hypotonia and laxity on musculoskeletal development.
  • Discussion of diagnostic and management strategies for common orthopedic issues.

Main Results:

  • Atlanto-occipital and atlantoaxial instability are significant concerns due to bony anomalies and laxity.
  • Scoliosis, hip instability, slipped capital femoral epiphysis, patellar instability, and foot deformities are frequently observed.
  • Screening protocols for cervical instability, especially for sports participation, remain debated.

Conclusions:

  • Orthopedic conditions are a major challenge in managing patients with Down syndrome.
  • Careful monitoring and tailored treatment are essential for improving patient outcomes.
  • Further research is needed to standardize screening and management protocols for these patients.

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