$Unique_ID{BRK04331} $Pretitle{} $Title{Williams Syndrome} $Subject{Williams Syndrome Beuren's syndrome Early Hypercalcemia syndrome Elfin Face Hypercalcemia-Supravalvar Aortic Stenosis Hypercalcemic Face Infantile Hypercalcemia syndrome Idiopathic Williams-Beuren syndrome Noonan Syndrome Idiopathic Infantile Hypercalcemia Supravalvar Aortic Stenosis} $Volume{} $Log{} Copyright (C) 1986, 1987, 1988, 1989, 1992 National Organization for Rare Disorders, Inc. 298: Williams Syndrome ** IMPORTANT ** It is possible the main title of the article (Williams Syndrome) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Beuren's syndrome Early Hypercalcemia syndrome Elfin Face Hypercalcemia-Supravalvar Aortic Stenosis Hypercalcemic Face Infantile Hypercalcemia syndrome, Idiopathic Williams-Beuren syndrome Information can be found on the following disorders in the Related Disorders section of this report. Noonan Syndrome Idiopathic Infantile Hypercalcemia Supravalvar Aortic Stenosis 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. Williams Syndrome is a rare congenital disorder characterized by distinctive elfin facial features, extraordinarily sensitive hearing, developmental delays, short stature, and an impulsive, outgoing personality. Other symptoms, which may appear in some cases, include a star-like pattern in the iris of the eye, low birth weight, heart disorders, elevated calcium levels in the blood, hernias, learning disabilities, and/or possible mild mental retardation. Symptoms Children born with Williams syndrome may exhibit the following symptoms: 1. Facial characteristics resemble an "elfin face", with a broad forehead, upturned nose, wide mouth, full lips, widely spaced teeth, small chin, puffiness around the eyes, a small head and depressed nasal bridge. 2. Hearing is apparently oversensitive. Patients with Williams syndrome can overreact to loud and high-pitched sounds. 3. Motor development such as sitting, walking, language, gross and fine motor skills may be delayed. 4. Personality is friendly and talkative. Children with Williams syndrome seem unafraid of strangers. They have some attention problems and are sometimes described as impulsive. 5. Children with blue or green eyes may have a star-like pattern in the iris. Brown-eyed children with Williams syndrome usually don't display this pattern. 6. Some children with Williams syndrome have a low birth weight and may not thrive. Vomiting, gagging, diarrhea or constipation are common in infancy. 7. Heart disorders may occur, ranging from slight murmurs to narrowing (stenosis) of the aorta or the pulmonary veins. 8. The calcium level in the blood may be elevated. When this symptoms occurs, it appears only during the first two months of life, then disappears. 9. Hernias at the navel (umbilical) or in the groin (inguinal) may occur. 10. Mild mental retardation may occur, but some children have average intelligence with severe learning disabilities. They exhibit attention- deficit behaviors, but generally have good long-term memory. 11. Premature puberty occurs in many of these children. Causes The exact cause of Williams Syndrome is unknown although in some cases it is thought to be 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 Williams syndrome may affect infants of both sexes, and it occurs in all races. This disorder occurs in about 1 in 20,000 births. Related Disorders Noonan Syndrome is an inherited disorder with widely variable symptoms whereas Williams Syndrome may or may not be inherited. Patients may exhibit distinctive facial characteristics at birth similar to those of Williams Syndrome. Short stature and heart disease mark some cases in both disorders. It is much less prevalent among Noonan patients. (For more information on this disorder, choose "Noonan" as your search term in the Rare Disease Database. Idiopathic Infantile Hypercalcemia without any other symptoms is an elevated calcium level in the blood, without a known cause. This occurs during infancy. Supravalvar Aortic Stenosis is the narrowing of the aorta occurring above the aortic valve. This may occur alone, or in conjunction with other disorders. Therapies: Standard When elevated calcium levels in the blood of affected infants occurs, excessive Vitamin D in the diet should be avoided and calcium should be restricted to 25 to 100 milligrams per day. For severe hypercalcemia, hydrocortisone analog therapy may be considered on a temporary basis. An endocrinologist should be consulted. After a child is a few months old, calcium levels will return to normal even in untreated patients. For the physical and mental developmental deficiencies, centers for developmentally disabled children and special education services in schools may be beneficial. Medical help from heart specialists and other physicians, speech and language therapy, occupational and physical therapy, and vocational training can all help children with Williams Syndrome to cope with their handicaps. Therapies: Investigational The University of Nevada School of Medicine, The Indiana University School of Medicine, and The Utah School of Medicine are studying blood samples in DNA in a collaborative effort to locate the genes responsible for Williams Syndrome and Supravalvular Aortic Stenosis. It is thought that these two disorders may be closely linked. Researchers are collecting DNA from children with Williams Syndrome and their parents. Interested families may contact: Dr. Colleen A. Morris 2040 W. Charleston Blvd., Suite 401 Las Vegas, NV 89102 (702) 385-5011 This disease entry is based upon medical information available through December 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 Williams Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Williams Syndrome Association P.O. Box 3297 Ballwin, MO 63022-3297 Infantile Hypercalcaemia Foundation Ltd. 37 Mulberry Green Old Harlow, Essex CM17 OE4 England NIH/National Institute of Child Health and Human Development 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5133 For information on genetics 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 FACTS ABOUT WILLIAMS SYNDROME: Williams Syndrome Association, 1984. BIRTH DEFECTS COMPENDIUM, 2nd ed: Daniel Bergsma, ed; March of Dimes, 1979. THE WILLIAMS SYNDROME ASSOCIATION NATIONAL NEWSLETTER, Volume 9, #1, Spring 1992.