Spondylocarpotarsal synostosis


Spondylocarpotarsal synostosis: A rare genetic disorder characterized by short stature, fusion of toe and finger bones and failure of spinal segmentation.


* Short stature * Short trunk * Failure of spinal segmentation * Block vertebrae * Scoliosis * Lordosis * Fusion of carpal bones * Fusion of tarsal bones * Flat feet


Scoliosis * Idiopathic (75–80% of cases) scoliosis usually occurs in otherwise healthy patients; pain and neurologic deficits are rare; right thoracic curve is most common, then double curve (right thoracic and left lumbar); named by convex side –Infantile (birth to 3 years): Rare in the U.S. –Juvenile (4–10 years): Uncommon –Adolescent (11 years to skeletal maturity): Occurs mostly in females * Neuromuscular scoliosis –Common with paralytic disorders –More severe, almost always progressive o Congenital scoliosis –Failure of formation or segmentation * Kyphosis Postural roundback o Scheuermann's disease –Second most common pediatric spinal deformity –Cannot voluntarily correct –Angulation in mid- to low-thoracic spine o Congenital kyphosis Less common etiologies (“zebras”) o Post-thoracotomy o Marfan's syndrome o Neurofibromatosis o Achondroplasia o Diastrophic dwarfism o Specific neuromuscular disorders (e.g., cerebral palsy, syringomyelia, polio, muscular dystrophy, cord tumor/trauma)


Only two treatments effectively treat scoliosis: spinal bracing and surgery. If monitored closely, a properly constructed and fitted brace can successfully halt progression of a curve in approximately 70% of cooperative patients. Most braces should be worn over a long T-shirt or similar article of clothing for 23 hours a day. However, mild curvatures may require less. Exercises must be done daily both in and out of the brace to maintain muscle strength. Patients should be seen for follow-up and brace adjustment every 3 months. Radiographs should be repeated at 6-month intervals. As the skeleton matures, as seen radiographically, brace wear should be gradually decreased until it’s worn only at night. The primary indications for surgery are relentless curve progression (usually curves over 40°) or significant curve progression despite bracing. Surgery corrects lateral curvature by posterior spinal fusion and internal stabilization with metal rods. A distraction rod on the concave side of the curve “jacks” the spine into a straight position and provides an internal splint. An alternative procedure, anterior spinal fusion, corrects curvature with vertebral staples and an anterior stabilizing cable. Some spinal fusions may require postoperative immobilization in a brace. Postoperatively, periodic checkups are required for several months to monitor stability of the correction.