Abstract
While officially designated as distal arthrogryposis type 2A, the condition commonly referred to as Freeman-Sheldon syndrome (FSS) also historically has been termed craniocarpotarsal dystrophy, whistling face syndrome, and craniocarpotarsal dysplasia and classified at different times as a skeletal dysplasia, nonprogressive myopathy, craniofacial syndrome, and distal arthrogryposis. Having previously provided evidence for FSS being a complex myopathic craniofacial syndrome with extra-craniofacial features in most patients, the rationale for revising the FSS eponym and supplanting the current official designation with a new one was based on considerations for educational usefulness, historical accuracy, communication fluency, and nosologic clarity underpinned by genetic, pathologic, and operative experience and outcomes.
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