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The Apert syndrome hand demonstrates many typical clinical features including syndactyly, symbrachyphalangism, and growth disturbances. This is due to the grossly abnormal anatomy of both the skeletal and soft-tissue structures associated with a progressive disease process. This paper presents a clinical, radiologic, and histologic analysis of the Apert syndrome hand anatomy and correlates it with the clinical manifestations. It also links hand and craniofacial dysplasia to other regions of the skeleton as well as the overall disease process. From our analysis, we conclude that there is a genetic anomaly causing variable and uncoordinated differentiation of the mesenchyme at the time of embryologic separation into its various skeletal components, particularly in the distal limb bud and craniofacial skeleton. This disease process continues postnatally in endochondral bone growth center malformation and malfunction as well as ectopic cartilage ossification in soft tissues. We discuss the role of abnormal musculotendinous anatomy and altered biomechanical forces in relation to these processes.

Imaging of the Apert syndrome hand is usually done with plain x-rays. This gives only a limited assessment of the grossly abnormal anatomy. Computed tomography (CT) and magnetic resonance imaging (MRI) have the ability to comprehensively demonstrate the spatial arrangement of the bones as well as the anatomy of the soft-tissue structures. This paper demonstrates the use of these two imaging modalities in the complex Apert syndrome hand to improve surgical planning and treatment.