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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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Symptoms


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What are the signs and symptoms of Singleton Merten syndrome?

Singleton Merten syndrome is characterized by abnormalities of the teeth (dental dysplasia); abnormal accumulation of calcium deposits (calcifications) in the aorta and certain valves of the heart (i.e., aortic and mitral valves); and/or progressive thinning and loss of protein of the bones (osteoporosis). Between the ages of four to 24 months, most affected infants experience generalized muscle weakness and loss or wasting away (atrophy) of muscle tissue. In approximately half of the reported cases, these symptoms begin after an episode of illness associated with a fever. Affected infants may also show delays in general physical development, possibly resulting in short stature or delays in the ability to coordinate muscles and perform certain tasks (motor development).[1]

Abnormalities affecting the teeth also occur at an early age in individuals with Singleton Merten syndrome. Affected infants may develop cavities and lose their primary teeth prematurely. Certain permanent teeth may not develop or may erupt late; those permanent teeth that do develop are usually malformed. In some cases, permanent teeth may also be lost prematurely.[1]

By late infancy or early childhood, affected individuals may experience symptoms associated with the progressive accumulation of calcium deposits (calcifications) in the aorta and on certain valves of the heart. The aorta arises from the lower pumping chamber of the heart (left ventricle) and supplies oxygen-rich blood to all the arteries of the body (excluding the pulmonary artery). In individuals with Singleton Merten Syndrome, calcifications form in the portion of the aorta nearest the heart (proximal thoracic aorta). The accumulation of calcium deposits is progressive and typically causes blockage and narrowing of the aorta (called calcific aortic stenosis), obstructing the flow of oxygenated blood. In some cases, abnormal calcium deposits may also develop around the valve on the left side of the heart (mitral valve calcification). As a result of calcification of these various structures, affected individuals may experience high blood pressure (hypertension); abnormal transmission of electrical impulses (conduction) that coordinate the activity of the heart muscle (heart block); abnormal contractions of the heart (systolic murmurs); and/or abnormal enlargement of the heart (cardiomegaly). By late adolescence, the heart may be unable to pump blood effectively, causing heart failure and leading to life-threatening complications.[1]

Infants with Singleton Merten syndrome may also experience abnormal thinning and weakness of the bones (osteoporosis). As a result, bones are frequently brittle and may fracture easily. Osteoporosis may occur in the skull and the long bones of the arms and legs, but is most prominent in the bones of the hands and fingers.[1]

Other findings associated with Singleton Merten syndrome may include malformations of the hips and feet that may occur due to muscle weakness; wearing away (erosion) of the bones in the tips of the fingers (terminal phalanges); and/or a chronic skin condition characterized by red, thick, scaly patches of skin (psoriasiform skin eruption). In some cases, affected individuals may have abnormal accumulation of pressure of the fluid of the eye (glaucoma) and/or abnormal sensitivity to light (photosensitivity).[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.