$Unique_ID{BRK04202} $Pretitle{} $Title{Russell-Silver Syndrome} $Subject{Russell-Silver Syndrome Silver-Russell Syndrome Russell Syndrome Silver Syndrome Asymmetry-Dwarfism Achondroplasia Prader-Willi Syndrome Cornelia-de Lange Syndrome } $Volume{} $Log{} Copyright (C) 1987, 1990 National Organization for Rare Disorders, Inc. 377: Russell-Silver Syndrome ** IMPORTANT ** It is possible the main title of the article (Russell-Silver 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 Silver-Russell Syndrome Russell Syndrome Silver Syndrome Asymmetry-Dwarfism Information on the following diseases can be found in the Related Disorders section of this report: Achondroplasia Prader-Willi Syndrome Cornelia-de Lange Syndrome 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. Russell-Silver Syndrome is a growth disorder commonly thought of as a type of dwarfism. It can be diagnosed before birth. People with this disorder are often very short (although some may attain normal height in adulthood) and have shortened arms, small triangular-shaped faces and light brown spots on their skin. Intelligence is often normal although in some cases mental retardation may occur. Children may reach puberty earlier than usual. Some developmental abnormalities tend to improve with age. In some cases of this disorder, organs are larger on one side of the body than the other (asymmetry). These cases are sometimes known as Silver Syndrome. Other cases involving normal sized organs on both sides of the body are sometimes known as Russell Syndrome. Therefore, patients may be diagnosed as having Russell Syndrome, Silver Syndrome, Russell Silver Syndrome or Silver Russell Syndrome. Symptoms Full term infants with Russell-Silver Syndrome are usually small at birth and may remain short throughout life. A small triangular face with corners of the mouth turned down and a prominent forehead are also initial signs of this disorder. Other symptoms may include unusually shortened arms, short incurved fifth fingers, light brown spots on the skin, webbing (syndactylism) of toes and/or failure of testes to descend into the scrotum (cryptorchidism). The head of people with this disorder is usually of normal size even though it appears to be large in comparison to the rest of the body. Causes The cause of Russell-Silver Syndrome is unknown although some medical researchers believe it may be inherited as either an X-linked or dominant trait with incomplete penetrance. Incomplete penetrance means the severity of the disorder is determined by the degree to which the gene defect has produced abnormalities. Other possible causes may include fetal disturbance at six to seven weeks gestation, or defects in the body's ability to manufacture or utilize human growth hormone. 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. X-linked recessive disorders are conditions which are coded on the X chromosome. Females have two X chromosomes, but males have one X chromosome and one Y chromosome. Therefore in females, disease traits on the X chromosome can be masked by the normal gene on the other X chromosome. Since males have only one X chromosome, if they inherit a gene for a disease present on the X, it will be expressed. Men with X-linked disorders transmit the gene to all their daughters, who are carriers, but never to their sons. Women who are carriers of an X-linked disorder have a fifty percent risk of transmitting the carrier condition to their daughters, and a fifty percent risk of transmitting the disease to their sons. 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 Russell-Silver Syndrome begins during the gestation period and affects males and females in equal numbers. However, males are usually more severely affected than females. Related Disorders There are many different growth disorders that can cause dwarfism. Some of these disorders involve hormone imbalances while others are characterized by bone growth dysfunction. Following is information on a small number of growth disorders: Achondroplasia is one of a group of growth disorders known as the osteochondroplasias. It is principally characterized by the failure of normal endochondral bone formation; i.e., there is a disturbance in the production and formation of the cartilage at the end of the long bones which inhibits the elongation of the bones. While it may be one of the most common forms of congenital bone disturbances present from birth, this disorder may not become apparent until failure of normal skeletal growth becomes obvious later in childhood. Prader-Willi Syndrome is a complex, multi-system disorder diagnosed more often in males. Usually an affected infant will be born following a prolonged gestation period. The primary features of the disorder include infantile muscle weakness (hypotonia), failure to thrive, hypogonadism, and development of severe obesity with short stature and possible disturbances of intellectual and behavioral functioning. Cornelia de Lange Syndrome is a growth disorder characterized by low birth weight, "normal" chromosome analysis, characteristic facial and skeletal defects, and some degree of mental retardation ranging from mild to profound. While not considered "hereditary", it carries a familial recurrence risk factor of 2-5%. Turner Syndrome is a genetic disorder affecting females which is characterized by lack of sexual development, small stature, possibly mental retardation, a webbed neck, heart defects, and various other congenital problems. Individuals have an XO karyotype (i.e., they have neither the second X chromosome that characterizes females nor the Y chromosome of males), but they have a female appearance. For more information on the above disorders, choose "Achondroplasia," "Prader-Willi," "Turner," and "Cornelia-de Lange" as your search terms in the Rare Disease Database. Therapies: Standard Human Growth Hormone (HGH) is used for treatment of Russell-Silver Syndrome and other types of dwarfism. Some gains in overall body growth may occur with this therapy. Other treatment is symptomatic and supportive. Therapies: Investigational This disease entry is based upon medical information available through February 1990. 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 Russell-Silver Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Association for Children with Russell-Silver Syndrome 22 Hoyt Street Madison, NJ 07940 (201) 377-4531 The National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 The Magic Foundation 1327 N. Harlem Ave. Oak Park, IL 60302 (708) 383-0808 Human Growth Foundation (HGF) 7777 Leesburg Pike P.O. Box 3090 Falls Church, VA 22043 (703) 883-1773 (800) 451-6434 Parents of Dwarfed Children 11524 Colt Terrace Silver Spring, MD 20902 Little People of America P.O. Box 633 San Bruno, CA 94066 (415) 589-0695 International Center for Skeletal Dysplasia St. Joseph Hospital 7620 York Rd. Towson, MD 21204 (301) 337-1250 Short Stature Foundation 17200 Jamboree Rd., Suite J Irvine, CA 92714-5828 (714) 474-4554 800-24 DWARF Association for Research into Restricted Growth 2 Mount Court 81 Central Hill London SE 19 1 BS England 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 TREATMENT OF SILVER-RUSSELL TYPE DWARFISM WITH HUMAN GROWTH HORMONE: EFFECTS ON SERUM SOMATOMEDIN-C LEVELS AND ON LONGITUDINAL GROWTH STUDIED BY KNEMONETRY: C.J. Partsch, et. al.; Acta Endocrinol [Suppl] (Copenh) (1986, issue 279). Pp. 139-146. REEVALUATION OF RUSSELL-SILVER SYNDROME: R.A. Pagon, et. al.; J Pediatr (Nov. 1985, issue 107(5)). Pp. 733-737. X-LINKED SHORT STATURE WITH SKIN PIGMENTATION: EVIDENCE FOR HETEROGENEITY OF THE RUSSELL-SILVER SYNDROME: M.W. Partington; Clin Genet (Feb. 1986, issue 29(2)). Pp. 151-156.