Originally described as a skeletal dysplasia and later as a myopathic distal arthrogryposis, Sheldon-Hall syndrome (SHS) involved a congenital non-progressive constellation of craniofacial, hand and feet, and sometimes spinal malformations.

The features in patients with SHS were less dramatic but similar to those found in patients with Freeman-Burian syndrome (FBS), with which it was often confused. Relatively little was known about SHS. While treatment for FBS and SHS was similar, distinguishing between SHS and FBS was of great therapeutic importance, with FBS being more severe, less responsive to therapy, and having an overall worse clinical outcome than SHS. The diagnostic criteria for SHS required small mouth (not microstomia), small but prominent chin, prominent nasolabial folds, neck webbing, and deformities of the distal extremities. Previous criteria included: triangular face, micrognathia, highly arched palate, attached ear lobules, down-slanting palpebral fissures, short stature, and deformities of the distal extremities. Limb malformations that were accepted in the diagnostic criteria for both FBS and SHS included two or more of the following: talipes equinovarus, metatarsus varus, vertical talus, talipes equinovalgus, calcaneovalgus, camptodactyly, ulnar deviation of wrists and fingers, overlapping fingers or toes, and hypoplastic or absent interphalangeal creases. Patients with SHS lacked a history of dysphagia and the five craniofacial features pathognomonic for FBS. Most instances of SHS were sporadic, but autosomal dominant inheritance has been established, as well. There was no apparent gender, ethnic, or geographical preference, and environmental and parental factors were not implicated in pathogenesis.