Scoliosis and Orthopedic Concerns in Alström Syndrome

Musculoskeletal findings are common in Alström Syndrome — a 2025 review of 55 cases found that nearly all patients had some degree of musculoskeletal deformity, though most don't significantly affect daily functioning.¹ Scoliosis requiring surgical intervention occurs in about 11% of cases. This article covers what orthopedic findings are typical and what monitoring and management look like.

Scoliosis

Lateral (sideways) curvature of the spine is described in many patients. Severity varies:

• Mild — observed and monitored
• Moderate — may need bracing
• Severe — sometimes requiring surgical correction (about 11% in the 2025 review)

Kyphosis

Forward (rounded) curvature of the upper spine, often partially correctable, is common. Severe kyphosis can affect lung function alongside any cardiac issues.

Brachydactyly

Short fingers and toes, often with stubby appearance. Usually doesn't affect function significantly. Common but not universal.

Wide, thick, flat feet

Many children with Alström have flat feet (pes planus) and broader, thicker foot architecture. Most don't cause pain; supportive footwear helps when symptoms develop.

Femoral anteversion

Inward rotation of the femur, sometimes causing in-toeing in childhood that often improves with growth.

Reduced bone density

Some adults have reduced bone density, related to hypogonadism, vitamin D status, and other factors.

The mechanisms aren't fully established. Possible factors:

• Direct ALMS1 effects on connective tissue and bone development
• Accelerated bone age and altered growth patterns
• Hormonal contributions
• Effects of the central obesity and reduced physical activity in some patients

Spinal screening

Periodic spinal exam at routine visits. Spinal X-rays when scoliosis or kyphosis is suspected to assess curve magnitude.

Other orthopedic considerations

• Foot and gait assessment
• Functional impact on activities
• Pain assessment
• Bone density testing in adults, particularly with hypogonadism

Mild findings

Often just observation and supportive care:

• Comfortable, supportive footwear
• Posture awareness
• Physical activity to maintain strength and flexibility
• Periodic assessment

Moderate scoliosis or kyphosis

• Bracing in growing children may slow curve progression
• Physical therapy
• Orthopedic follow-up

Severe curves

• Surgical correction (typically spinal fusion) for curves that progress beyond bracing thresholds
• Detailed pre-operative planning given Alström's cardiac and other considerations
• Pediatric orthopedic spine surgery teams

Bone health in adults

• Calcium and vitamin D adequacy
• Weight-bearing activity within capability
• Treatment of hypogonadism
• DEXA bone density scans
• Bisphosphonates or other bone-protective medications when osteoporosis is documented

Any orthopedic surgery in Alström warrants:

• Cardiology clearance
• Anesthesia consultation familiar with cardiac considerations
• Pulmonary assessment if scoliosis affects lung function
• Endocrine review for diabetes management around surgery
• Coordination across the broader care team

For most patients with mild orthopedic findings, the impact is modest:

• Choose supportive shoes
• Build core strength through age-appropriate activities
• Address pain or functional limits if they develop

For those with significant scoliosis or pain:

• Physical therapy
• Pain management approaches
• Adaptive strategies for activities

• Lung and Breathing Problems in Alström Syndrome
• Short Stature and Growth in Alström Syndrome
• Exercise and Physical Activity in Alström Syndrome

April 30, 2026.