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page: Search posts:  Genetics Home Reference: Freeman-Sheldon
syndrome  Posted Oct 04 2010 12:07pm Reviewed September 2010
What is Freeman-Sheldon syndrome?  Freeman-Sheldon syndrome is a
condition that primarily affects the face, hands, and feet.
People with this disorder have a distinctive facial appearance
including a small mouth (microstomia) with pursed lips, giving
the appearance of a "whistling face." For this reason, the
condition is sometimes called "whistling face syndrome."  People
with Freeman-Sheldon syndrome may also have a prominent forehead
and brow ridges, a sunken appearance of the middle of the face
(midface hypoplasia), a short nose, a long area between the nose
and mouth (philtrum), deep folds in the skin between the nose
and lips (nasolabial folds), full cheeks, and a chin dimple
shaped like an "H" or "V".  Affected individuals may have a
number of abnormalities that affect the eyes. These may include
widely spaced eyes (hypert