/Singleton-Merten dysplasia

Singleton-Merten dysplasia

Rare Disease

MONDO:0008429

Also Known As

Merten-Singleton syndromeSingleton Merten syndromeSingleton-Merten syndromesingleton Merten syndromeSGMRT1SM syndromesyndrome of widened medullary cavities of the metacarpals and phalanges, aortic calcification and abnormal dentitionwidened medullary cavities of bone, aortic calcification, abnormal dentition, and muscular weakness

Definition

Singleton-Merten dysplasia is characterized by dental dysplasia, progressive calcification of the thoracic aorta with stenosis, osteoporosis and expansion of the marrow cavities in hand bones. Additional features included generalized muscle weakness and atrophy, and chronic psoriasiform skin eruptions. It has been reported in four unrelated patients (male and female) and in a family with multiple affected members (male).