Freeman-Sheldon Syndrome (also known as "Whistling Face Syndrome") is a rare genetic condition which characteristically includes a small "whistling" mouth, a flat mask-like face, club feet, joint contractures usually involving the fingers and hands, and under-development of the cartilage of the nose. Intelligence is usually normal. Most of the features of this syndrome are due to muscle weakness.

Freeman-Sheldon Syndrome is most recognizable by its facial features. The hallmark of the syndrome is the small mouth.

Mouth: The mouth is small, with tight, pursed lips that look the person is attempting to whistle. This can make feeding more difficult, and can pose a choking hazard if the obstruction cannot be easily removed. The small mouth can be enlarged through surgery. The photograph to the left is post-surgery. Eyes: The eyes can appear a bit sunken, and the eyelids may be somewhat drooped. This can impair vision, but can be corrected through surgery. The photograph to the left is pre-surgery. In addition, someone with FSS may appear to be cross-eyed ("Strabismus"). Long Philtrum: The distance between the nose and mouth is extended. Chin: "H" or "Y" shaped dimpling on the chin. High palate: The high palate can affect speech, resulting in a more nasal quality.

Click the photograph to see characteristics

In addition, people with Freeman-Sheldon Syndrome have orthopedic problems.

Clubbed Feet: Feet can be turned outward or inward, hampering the ability to walk. This can be corrected through casting or surgery. In extreme cases, amputation may be necessary .

Scoliosis: A curved spine, either bowed or in an "S" shape can compress heart and lungs if left untreated. The progression of the curve can be slowed through bracing, but surgery is required in most cases.

"Windvaned" or Clinched Hands: Hands can point outward or be clinched in fists. This impairs hand function, but can be corrected with splints, occupational therapy, and/or surgery in most cases.

Malignant Hyperthermia: A severe reaction to inhaled surgical anaesthesia where the muscles seize up and body temperature spikes. Malignant Hyperthermia has occured in some individuals with FSS. It is Life Threatening. Advise your doctor of this potential problem.