Freeman-Sheldon syndrome
Definition
Freeman-Sheldon syndrome (FSS) is a very rare genetic disorder characterized by a small, puckered mouth, which gives the appearance of a person whistling. For this reason, Freeman-Sheldon syndrome is also known as whistling face syndrome. FSS may also be referred to as windmill vane hand syndrome or craniocarpotarsal dystrophy.
Description
Ernest Freeman and Joseph Sheldon, two British physicians, first described this distinct disorder in 1938. The syndrome is characterized by skeletal malformations in the hands and feet and facial abnormalities.
In addition to the small mouth, characteristics of FSS include a flat, mask-like face, underdeveloped nose cartilage, contracted muscles of the joints of fingers and hand, and clubbed feet. Most of the features of FSS are caused by...
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