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Diseases

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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Tests & Diagnosis

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How is Singleton Merten syndrome diagnosed?

The diagnosis of Singleton Merten syndrome may be suspected during infancy based upon the identification of characteristic physical findings (i.e., muscle weakness, muscle atrophy, dental abnormalities, and skeletal changes). A diagnosis may be confirmed by a thorough clinical evaluation, a detailed patient history, and/or a variety of specialized tests. The identification of calcium deposits in the aorta, in association with the other findings described above, strongly suggests a diagnosis of Singleton Merten syndrome.[1]

X-ray tests may be used to confirm the presence and extent of calcifications in the aorta. Obstruction or narrowing (stenosis) of the heart valves, particularly the aortic and mitral valves, may be confirmed by cardiac catheterization. During this procedure, a small hollow tube (catheter) is inserted into a large vein and threaded through the blood vessels leading to the heart. This procedure allows physicians to determine the rate of blood flow through the heart and measure the pressure within the heart. X-ray studies may also be performed to confirm the presence and extent of osteoporosis. Osteoporosis may be suspected when bone fractures occur more frequently than usual. X-ray tests may also reveal abnormal widening of the hollow parts of the bones that contain soft fatty tissue (bone marrow cavities) within the bones of the hands and/or feet.[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.


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.