Important It is possible that the main title of the report Singleton Merten syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
Singleton-Merten syndrome is an extremely rare, multisystem disorder the major characteristics of which are tooth abnormalities (dental dysplasia), calcifications in the aorta, the major artery of the body, and certain valves of the heart (i.e., aortic and mitral valves), as well as progressive thinning and loss of protein of the bones (osteoporosis), especially the upper and back portions of the skull (cranium). Other physical findings usually associated with Singleton-Merten syndrome may include generalized muscle weakness; progressive loss or wasting away of muscle tissue (atrophy); growth retardation, possibly resulting in short stature; delays in motor development; a skin condition characterized by thickened patches of red, scaly skin, particularly on the fingers; and/or malformation of the hips and/or feet. It appears that, in some cases, Singleton-Merten syndrome is present as a result of a random (sporadic) mutation that occurs for no apparent reason. In other cases, an autosomal dominant pattern of inheritance has been suggested.
NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse One AMS Circle Bethesda, MD 20892-3675 USA Tel: (301)495-4484 Fax: (301)718-6366 Tel: (877)226-4267 TDD: (301)565-2966 Email: NIAMSinfo@mail.nih.gov Internet: http://www.niams.nih.gov/
NIH/National Heart, Lung and Blood Institute P.O. Box 30105 Bethesda, MD 20892-0105 Tel: (301)592-8573 Fax: (301)251-1223 Email: email@example.com Internet: http://www.nhlbi.nih.gov/
NIH/Osteoporosis and Related Bone Diseases National Resource Center 2 AMS Circle Bethesda, MD 20892-3676 USA Tel: (301)495-4484 Fax: (301)718-6366 Tel: (877)226-4267 TDD: (301)565-2966 Email: NIHBoneInfo@mail.nih.gov Internet: http://www.bones.nih.gov
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It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report
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Last Updated: 3/12/2012 Copyright 1997, 1998, 2004, 2008, 2012 National Organization for Rare Disorders, Inc.
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