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Singleton-Merten dysplasia

MONDO:0008429

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).

Also known as: Merten-Singleton syndrome, Singleton Merten syndrome, Singleton-Merten syndrome, singleton Merten syndrome, SGMRT1, 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

43 clinical trials for this condition and its sub-types.

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Sub-types

Singleton-Merten syndrome 1 (0) Singleton-Merten syndrome 2 (0)

Broader categories

Disease (618) Hereditary disease (172) Rheumatic disorder (80) Connective tissue disorder (67) Syndromic disease (24) Autoinflammatory syndrome (18) Human disease (14) Type 1 interferonopathy (4) Disease of genetic or genomic mechanism (2) Autoinflammatory syndrome of childhood (0)
Trials to join now! 19 Not yet recruiting 4 Not yet finished but already full! 7 Completed 13
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