Down syndrome (trisomy 21) is associated with congenital defects in many organ systems. Musculoskeletal involvement can cause long-term disability and lead to repeated medical intervention.
Orthopedic problems related to Down syndrome may require referral to physical therapists, orthopedists, or podiatrists. Chiropractic care, acupuncture, and massage therapy—in consultation with medical specialists—may also be useful.
Skeletal Abnormalities Commonly Found in Down Syndrome
- Shortened femurs (thigh bones): This anomaly is a marker for Down syndrome on prenatal ultrasound. Foreshortened femurs contribute to short stature and may affect gait and posture.
- Scoliosis: Significant twisting and rotation of the spinal column can cause back pain, respiratory difficulties, and compensatory shifts in the pelvis and hips. When detected early, scoliosis might be treatable with bracing and body jackets. Severe scoliosis may require surgical correction with internal bracing (e.g., Harrington rods).
- Hyperflexibility: Excessive range of motion at multiple joints may increase the risk of injury and degenerative arthritis. Physical therapy may help.
- Patellar subluxation or dislocation: Congenital displacement of the kneecap is often a sign of muscular imbalance. Physical therapy is often useful. Surgery may be necessary for refractory or recurrent cases.
- Slipped capital femoral epiphysis: The ball of the hip joint is normally transected by a growth plate (if a bowl is inverted and placed atop another bowl, the touching rims would simulate the epiphysis). This growth plate usually fuses in late adolescence. Occasionally—this typically occurs during growth spurts and is more common in Down syndrome—the top half of the ball slides off the bottom half, leading to pain and hip dysfunction. If untreated, the condition results in arthritis and significant disability. Surgical insertion of fixative pins across the growth plate is the treatment of choice.
- Late hip dislocation: Hip dislocation is an occasional finding in newborn infants. Indeed, part of the physical examination for all infants includes a simple maneuver to check for this condition. Hip dislocation is more common in Down syndrome and is far more prevalent (6%) after the age of two years, when spontaneous dislocation is rare in genetically normal children.
- Foot deformities: Pes planus (flattened arch) and metatarsus primus varus (inbowing of the first metatarsal) are the most common foot malformations in children with Down syndrome. Club feet have also been noted. Foot deformities can adversely affect gait and balance and can cause significant foot pain. Orthopedic referral for bracing, casting, or possibly surgery is recommended.
- Atlanto-occipital and atlantoaxial instability: The first two vertebrae in the cervical spine are sometimes unstable in children with Down syndrome (13% have asymptomatic atlantoaxial instability). The American Academy of Pediatrics has recommended that all children with Down syndrome get screening neck x-rays between the ages of 3 and 5 years, but this recommendation has not been universally embraced. It does seem prudent to obtain x-rays in affected children prior to general anesthesia (where the neck is bent backward prior to intubation), or if the child is considering participation in contact sports.
(Sources: Pediatric Physical Therapy, Lippincott Williams &Wilkins, 2007; Am Fam Physician 1999;59(2):381-91; The Merck Manual 16th Edition, 2248-49)
Skeletal anomalies are commonly found in infants and children with Down syndrome. In concert with congenital abnormalities in other organ systems, bone malformations can contribute to overall dysfunction. Many skeletal problems are amenable to physical therapy, bracing, casting, or specialized footwear. Surgery is occasionally necessary to limit disability.
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