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. There may be strabismus, drooping upper eyelids, scoliosis, hearing loss and walking difficulties. Vomiting and feeding problems have been noted during infancy, but improve with age. The tongue may be small, and the limited movement of the soft palate may cause nasal speech. Often there is an H- or Y-shaped dimpling of the skin over the chin.

Freeman-Sheldon Syndrome (FSS) can run in families, and its features may be subtly expressed. It may also occur sporadically and without any family history. Males and females are affected in equal numbers. It has occurred in siblings. In most families, Freeman-Sheldon Syndrome follows an autosomal dominant inheritance pattern, but in some families it follows an autosomal recessive inheritance pattern. Genetic consultation should be considered. FSS is recognizable at birth, although some of the manifestations such as scoliosis may not become apparent until a later age. Freeman-Sheldon Syndrome has been diagnosed prenatally by ultrasound. Presently there is no laboratory test which can diagnose Freeman-Sheldon Syndrome. Chromosome tests are normal.

Children with Freeman-Sheldon Syndrome often require orthopedic or plastic surgery to correct the problem with their hands, club feet, and/or tight mouth. Cosmetic facial surgery can improve both function and appearance. Craniofacial surgery will reshape the frontal bone and increase eyelid openings. Malignant hyperthermia (a serious problem with inhaled anesthetic agents) has been encountered; therefore it is very important to discuss this potential problem with the anesthesiologist and surgeon. Muscle biopsy may rule out this risk. Physical therapy may be helpful for improving hand function and ambulation. When necessary, thumb transposition greatly improves hand function. Speech therapy has been beneficial for improving tongue movement for speech and swallowing. Depending upon the degree to which various muscles are affected, adaptive devices may be very helpful. Intelligence is usually normal. Children can be enrolled in regular school and can participate in extracurricular activities including music and athletics. Health is generally good and life expectancy is normal.

                                 Contact us at:
                      Freeman-Sheldon Parent Support Group
                             509 East Northmont Way
                        Salt Lake City, Utah 84103-3324
                                 (801) 364-7060
                          Or by email at [email protected]