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Singleton Merten Syndrome
National Organization for Rare Disorders, Inc.
- Merten-Singleton Syndrome
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
One AMS Circle
Bethesda, MD 20892-3675
NIH/National Heart, Lung and Blood Institute
P.O. Box 30105
Bethesda, MD 20892-0105
NIH/Osteoporosis and Related Bone Diseases National Resource Center
2 AMS Circle
Bethesda, MD 20892-3676
For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders, Inc.® (NORD). Cigna members can access the complete report by logging into myCigna.com. For non-Cigna members, a copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html.
The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.
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
This disease entry is based upon medical information available through the date at the end of the topic. 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.
For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email firstname.lastname@example.org
Last Updated: 11/3/2008
Copyright 1997, 1998, 2004, 2008 National Organization for Rare Disorders, Inc.