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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Freeman-Sheldon Syndrome - Wikipedia
Detailed description of incidence, nosology, inheritance, and condition management.
National Craniofacial Association
Summarizes the child's likely needs, and has links to other resources.
Online Mendelian Inheritance in Man
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.
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Last update:
April 12, 2016 at 6:54:06 UTC
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