Singleton-Merten syndrome

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Raviteja Guddeti, M.B.B.S. [2]

Synonyms and keywords: Merten-Singleton syndrome

Overview

Singleton Merten syndrome is an extremely rare, multisystem disorder. It is a syndrome of widened medullary cavities of the metacarpals and phalanges, aortic valve calcification and abnormal dentition.

Pathophysiology

Singleton Merten syndrome 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.

Pathology

The major characteristics are

• Tooth abnormalities (dental dysplasia)
• Calcifications in the aorta and certain valves of the heart (i.e., aortic and mitral valves)
• Progressive thinning and loss of protein of the bones (osteoporosis), especially the upper and back portions of the skull.
• Skin conditions
• Malformation of the hips and/or feet
• Growth delay
• Delays in motor development

Diagnosis

Symptoms

• Generalized muscle weakness

Physical Examination

Extremities

• Generalized muscle weakness
• Muscle atrophy

Treatment

Treatment is typically directed toward the specific symptoms that are present in each individual.

References

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