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Genetic and Rare Diseases Information Center (GARD)

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Singleton Merten syndrome


Other Names for this Disease

  • Merten-Singleton syndrome
  • SM syndrome
  • Syndrome of widened medullary cavities of the metacarpals and phalanges, aortic calcification and abnormal dentition
  • Widened medullary cavities of bone, aortic calcification, abnormal dentition, and muscular weakness
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Overview

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 (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.[1]
Last updated: 4/14/2011

References

  1. Singleton Merten syndrome. NORD. December 31, 2010; http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Singleton%20Merten%20Syndrome. Accessed 4/14/2011.
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Basic Information

  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an 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.
Other Names for this Disease
  • Merten-Singleton syndrome
  • SM syndrome
  • Syndrome of widened medullary cavities of the metacarpals and phalanges, aortic calcification and abnormal dentition
  • Widened medullary cavities of bone, aortic calcification, abnormal dentition, and muscular weakness
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.