What are the possible orthopedic complications of Down syndrome?

Updated: May 18, 2020
  • Author: Gratias Tom Mundakel, MBBS, DCH; Chief Editor: Maria Descartes, MD  more...
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Approximately 20% of all patients with Down syndrome experience orthopedic problems. [67] Upper cervical spine instability has the most potential for morbidity and consequently requires close monitoring. Other conditions (eg, scoliosis, hip instability, patellar instability, and foot problems) can cause disability if left untreated. In some of these conditions, early diagnosis can prevent severe disability.

Atlantoaxial instability, defined as increased mobility of the cervical spine at the level of the first and second vertebrae, can lead to subluxation of the cervical spine. Approximately 10-30% of individuals with Down syndrome have this condition. [68] Most are asymptomatic; however, 10% of individuals with atlantoaxial instability have symptoms, including neck pain, torticollis, changes in gait, changes in bowel or bladder control, or other signs of paralysis or weakness. [69]

Joint dislocations due to ligamentous laxity and hypotonia are observed. Other orthopedic conditions include genu valgus, overpronation of the ankle, and flat feet.

There is an increased risk of juvenile idiopathic arthritis in Down syndrome. [70]  Down syndrome is also associated with a greater risk of osteoporosis, and the incidence of fractures is high, especially in patients over age 50 years. [55]

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