Singleton Merten syndrome
Other Names for this Disease
- Merten-Singleton syndrome
- SM syndrome
- Widened medullary cavities of bone, aortic calcification, abnormal dentition, and muscular weakness
- Syndrome of widened medullary cavities of the metacarpals and phalanges, aortic calcification and abnormal dentition
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osteoporosis), especially the upper and back portions of the skull. Other physical findings may include generalized muscle weakness; progressive muscle atrophy; growth delay; delays in motor development; skin conditions; and/or malformation of the hips and/or feet. It appears to occur sporadically (in individuals with no history of the condition in their family) but in some cases, autosomal dominant inheritance has been suggested. Treatment is typically directed toward the specific symptoms that are present in each individual.Singleton Merten syndrome is an extremely rare, multisystem disorder. The major characteristics are tooth abnormalities (dental dysplasia); calcifications in the aorta and certain valves of the heart (i.e., aortic and mitral valves); and progressive thinning and loss of protein of the bones (
Last updated: 4/14/2011
- Singleton Merten syndrome. NORD. December 31, 2010; http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Singleton%20Merten%20Syndrome. Accessed 4/14/2011.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Singleton Merten syndrome. Click on the link to view a sample search on this topic.