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Singleton Merten syndrome

Abstract

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NORD is very grateful to Emile Mohler, MD, Director of Vascular Medicine, University of Pennsylvania Health System, for assistance in the preparation of this report.

Synonyms of Singleton Merten syndrome

  • Merten-Singleton syndrome

Disorder Subdivisions

  • No subdivisions found.

General Discussion

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.

Organizations related to Singleton Merten syndrome

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