Health Conditions and Diseases Musculoskeletal Disorders Congenital Anomalies Arthrogryposis
Freeman-Sheldon Syndrome
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Freeman-Sheldon syndrome (FSS), also termed, distal arthrogryposis type 2A (DA2A), craniocarpotarsal dysplasia (or dystrophy), "whistling face-windmill vane hand syndrome", is a rare form of multiple congenital contracture (MCC) syndromes (arthrogryposises) and is the most severe form of distal arthrogryposis. Features include: talipes equinovarus, camptodactyly, scoliosis, ocular abnormalities with regard to the musculature involved, microstomia, high arched palate, attenuated movement of facial musculature, and various other primary anomalies involving, but limited to, the musculoskeletal systems.
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Detailed description of incidence, nosology, inheritance, and condition management.
Describes many case reports of FSS (also known as whistling face windmill vane hand syndrome), with references and a summary of the state of knowledge of the genetics.
Describes many case reports of FSS (also known as whistling face windmill vane hand syndrome), with references and a summary of the state of knowledge of the genetics.
Detailed description of incidence, nosology, inheritance, and condition management.
Last update:
September 2, 2020 at 5:15:09 UTC
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- Recently edited by shedragon