$Unique_ID{BRK03754} $Pretitle{} $Title{Freeman-Sheldon Syndrome} $Subject{Freeman-Sheldon Syndrome Whistling Face Syndrome Whistling Face-Windmill Vane Hand Syndrome Craniocarpotarsal Dystrophy FSS Arthrogryposis Multiplex Congenita} $Volume{} $Log{} Copyright (C) 1988, 1989, 1992 National Organization for Rare Disorders, Inc. 442: Freeman-Sheldon Syndrome ** IMPORTANT ** It is possible the main title of the article (Freeman-Sheldon Syndrome) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms Whistling Face Syndrome Whistling Face-Windmill Vane Hand Syndrome Craniocarpotarsal Dystrophy FSS Information on the following disease can be found in the Related Disorders section of this report: Arthrogryposis Multiplex Congenita General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources section of this report. Freeman-Sheldon Syndrome is a very rare genetic disorder characterized by abnormal muscle and skeletal development and is present at birth. The face, eyes, hands, and feet are most commonly affected. Intelligence is often within the normal range although some mental deficiency may occur. Symptoms Freeman-Sheldon Syndrome patients are affected by stiffened muscles. Other symptoms include a round forehead, a flat, expressionless face, full cheeks, and a small mouth giving a "whistling" appearance. The nose appears small with flared nostrils, and a broadened bridge with abnormal skin folds present on each side. Eyes are deep-set, may not be focused in the same direction, and tend to squint. The distance between the upper lip and the nose may be abnormally long. An "H" shaped dimple can appear on the chin. The tongue is small, the roof of the mouth is high, and speech is nasal sounding. During infancy, vomiting and swallowing difficulties may result in failure to thrive. The second through fifth fingers are permanently bent toward contracted thumbs, and the skin is thickened over the first finger. Clubfeet with contracted toes and an open or unfused spine (Spina Bifida) may also occur. (For more information on this disorder, choose "Spina Bifida" as your search term in the Rare Disease Database). These deformities can limit usage of involved hands and/or feet. Intelligence is usually normal although some mental deficiency may develop. Abnormalities in the interior bone structure of the skull are often present. In males, a hernia in the genital area (inguinal) or undescended testes may also be present. Ridges across the lower forehead, small stature, low birth weight, curvature of the spine (scoliosis) or dislocation of the hip may also occur in some children with Freeman-Sheldon Syndrome. Causes Freeman-Sheldon Syndrome is inherited as an autosomal dominant trait. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.) Affected Population Approximately thirty-six cases of Freeman-Sheldon Syndrome have been identified in the medical literature worldwide since it was first recognized in 1938 by two English physicians, Drs. Freeman and Sheldon. The disorder affects males and females in equal numbers. Related Disorders Symptoms of the following disorder can be similar to those of Freeman-Sheldon Syndrome. Comparisons may be useful for a differential diagnosis: Arthrogryposis Multiplex Congenita is a congenital disease characterized by reduced mobility of multiple joints at birth due to proliferation of fibrous tissue (fibrous ankylosis). The range of motion of all joints is limited or fixed. Shoulders are bent inward and internally rotated, the elbows are extended, and the wrists and fingers are bent. The hips may be dislocated and are usually slightly bent, the knees are extended, and the heel is bent inward from the midline of the leg while the foot is bent inward at the ankle (clubfoot). Intelligence is usually normal and lack of facial expression gives a sad appearance. (For more information on this disorder, choose "Arthrogryposis" as your search term in the Rare Disease Database). Therapies: Standard Treatment of Freeman-Sheldon Syndrome usually involves multiple surgeries which can be difficult due to muscle stiffness, thickened tissues or the use of splints or casts to improve bent fingers or feet. Cosmetic facial or hand/foot restructuring surgery can improve appearance. Correction of the thumb deformity may be the first surgery in the long-term treatment of many cases. Genetic counseling will be of benefit for patients and their families. Other treatment is symptomatic and supportive. Therapies: Investigational Several Freeman-Sheldon Syndrome (FSS) patients with a family history of Malignant Hyperthermia have developed spasms of the muscles that affect jaw movement as well as generalized muscle rigidity after the administration of anesthesia with known Malignant Hyperthermia triggering agents (halothane and succinylcholine). It has been suggested that non-triggering Malignant Hyperthermia agents should be considered for all patients with FSS. The University of Virginia Department of Plastic Surgery is reviewing surgical procedures for FSS. The address is: Craniofacial Abnormalities Dept. of Plastic and Maxillofacial Surgery University of Virginia Medical Center Box 376 Charlottesville, VA 22908 (804) 924-5801 The University of Utah Division of Pediatric Genetics has undertaken a gene mapping study of FSS. The address is: Freeman-Sheldon Gene Mapping Project Division of Pediatric Genetics MREB 413 University of Utah Medical Center Salt Lake City, UT 84112 (801) 581-8943 This disease entry is based upon medical information available through November 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Freeman-Sheldon Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Freeman-Sheldon Parent Support Group 509 E. Northmont Way Salt Lake City, UT 84103 (801) 364-7060 The National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 For genetic information, and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References OCULAR ABNORMALITIES IN THE FREEMAN-SHELDON SYNDROME: M. O'Keefe, et al.; Am J Ophthalmol (September 1986, issue 102(3)). Pp. 346-348. NEW EVIDENCE FOR GENETIC HETEROGENEITY OF THE FREEMAN-SHELDON (FS) SYNDROME: M. Sanchez, et al.; Am J Med Genet (November 1986, issue 25(3)). Pp. 507-511. FREEMAN-SHELDON SYNDROME: A DISORDER OF CONGENITAL MYOPATHIC ORIGIN? : J. Vanek, et al.; J Med Genet (June 1986, issue 23(3)). Pp. 231-236. MUSCLE RIGIDITY FOLLOWING HALOTHANE ANESTHESIA IN TWO PATIENTS WITH FREEMAN-SHELDON SYNDROME: Roger Jones, M.D., et al.; Anesthesiology (September 1992, issue 77(3)). Pp. 599-600.