$Unique_ID{BRK04209} $Pretitle{} $Title{Schwachman Syndrome} $Subject{Schwachman Syndrome Schwachman-Diamond Syndrome Metaphyseal Dysostosis Type B IV Burke Syndrome Neutropenia-Pancreatic Insufficiency Agranulocytosis Cystic Fibrosis } $Volume{} $Log{} Copyright (C) 1987, 1989 National Organization for Rare Disorders, Inc. 371: Schwachman Syndrome ** IMPORTANT ** It is possible the main title of the article (Schwachman Syndrome) is not the name you expected. Please check the SYNONYMS listing to find the alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms Schwachman-Diamond Syndrome Metaphyseal Dysostosis (Type B IV) Burke Syndrome Neutropenia-Pancreatic Insufficiency Information on the following diseases can be found in the Related Disorders section of this report: Agranulocytosis Cystic Fibrosis 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. Schwachman Syndrome usually begins in childhood and is characterized by insufficient digestive enzymes and low white blood cell count. Symptoms of this disorder may include chronic diarrhea, failure to grow due to improper digestion of nutrients, dwarfism and problems with bone growth. Persistent respiratory and skin infections usually occur and should be carefully guarded against. Symptoms Diarrhea is usually the initial symptom of Schwachman Syndrome. Infants with this disorder have frequent respiratory infections and tend to bleed easily due to a lowered number of blood clotting cells (platelets). Some cases may have anemia and/or failure to thrive due to insufficient absorption of nutrients from food. Dwarfism occurs in one-third of cases and bone deformities may cause impaired walking. Lowered resistance to respiratory and skin infections are major characteristics of this disorder. The symptoms of Schwachman Syndrome may mimic the respiratory and digestive symptoms of Cystic Fibrosis. (For more information on this disorder, choose "CF" as your search term in the Rare Disease Database). Causes The exact cause of Schwachman Syndrome is unknown. Insufficient amounts of digestive enzymes and white blood cells cause the digestive and respiratory characteristics of this disorder. Affected Population Schwachman Syndrome begins in infancy or early childhood. This disorder seems to affect males and females in equal numbers. Related Disorders Agranulocytosis is characterized by a marked decrease in the number of white blood cell components known as granulocytes. This results in increased susceptibility to infection. Major symptoms of this disorder include lesions of mucous membranes in the throat, gastrointestinal tract and skin. This disorder is also called granulocytopenia or Schultz disease. Side effects from drugs are the most common cause of Agranulocytosis. These drugs may include the alkylating agents, chemotherapeutic antimetabolites, phenothiazine derivatives, dibenzazepine compounds, antithyroid drugs, sulfonamides, antihistamines and anticonvulsants. (For more information on this disorder, choose "Agranulocytosis" as your search term in the Rare Disease Database). Cystic Fibrosis is an inherited respiratory disorder that affects the exocrine (outward-secreting) glands of the body in children and young adults. Mucous producing glands secrete mucous that is thick and sticky, clogging and obstructing air passages in the lungs and pancreatic and bile ducts. Cystic Fibrosis also causes dysfunction of salivary and sweat glands. There is presently no cure for CF, but with proper treatment, many of those affected can lead active lives. (For more information on this disorder, choose "CF" as your search term in the Rare Disease Database). Therapies: Standard Therapy for Schwachman Syndrome involves use of antibiotics to treat possible infections, pancreatic enzymes to correct deficiencies and a diet which is high in protein, calories and vitamins. Other treatment is symptomatic and supportive. Therapies: Investigational The French pharmaceutical manufacturer, FOURNIER, is developing the drug LF1695, which may restore the immune system in children with Hodgkin's Disease, Schwachman Syndrome, and Chagas Disease. Physicians interested in obtaining LF1695 may contact: Fournier Labs BP90, Daix, 21121 Fontaine Les Dijon, France This disease entry is based upon medical information available through May 1989. 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 Schwachman Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Digestive Diseases Information Clearinghouse Box NDDIC Bethesda, MD 20892 (301) 468-6344 Cystic Fibrosis Foundation 6931 Arlington Rd. Bethesda, MD 20814 1-800-FIGHT CF American Lung Association 1740 Broadway New York, NY 10019 (212) 315-8700 References PANCREATIC LIPOMATOSIS IN THE SCHWACHMAN-DIAMOND SYNDROME. IDENTIFICATION BY SONOGRAPHY AND CT-SCAN: E. Robberecht, et. al.; Pediatr Radiol (1985, issue 15(5)). Pp. 348-349. CYSTIC FIBROSIS "FACTOR(S)": PRESENT ALSO IN SERA OF SCHWACHMAN'S PANCREATIC INSUFFICIENCY: G. Banchini, et. al.; Pediatr Res (July 1981, issue 15(7)). Pp. 1073-1075. CHRONIC DIARRHEA AND NEUTROPENIA NOT ASSOCIATED WITH PANCREATIC INSUFFICIENCY: A NON-SHWACHMAN-DIAMOND ENTITY: L.R. Marino, et. al.; J Pediatr Gastroenterol Nutr (1983, issue 2(3). Pp. 559-562.