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Singleton-Merten syndrome 1

Synonyms
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

Summary

Singleton-Merten syndrome (SGMRT) is an uncommon autosomal dominant disorder characterized by abnormalities of blood vessels, teeth, and bone. Calcifications of the aorta and aortic and mitral valves occur in childhood or puberty and can lead to early death. Dental findings include delayed primary tooth exfoliation and permanent tooth eruption, truncated tooth root formation, early-onset periodontal disease, and severe root and alveolar bone resorption associated with dysregulated mineralization, leading to tooth loss. Osseous features consist of osteoporosis, either generalized or limited to distal extremities, distal limb osteolysis, widened medullary cavities, and easy tearing of tendons from bone. Less common features are mild facial dysmorphism (high anterior hair line, broad forehead, smooth philtrum, thin upper vermilion border), generalized muscle weakness, psoriasis, early-onset glaucoma, and recurrent infections. The disorder manifests with variable inter- and intrafamilial phenotypes (summary by Rutsch et al., 2015). Genetic Heterogeneity of Singleton-Merten Syndrome An atypical form of Singleton-Merten syndrome (SGMRT2; 616298) is caused by mutation in the DDX58 gene (609631) on chromosome 9p21. [from OMIM]

Available tests

20 tests are in the database for this condition.

Clinical tests (20 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AGS7, Hlcd, IDDM19, IMD95, MDA-5, MDA5, RLR-2, SGMRT1, IFIH1
    Summary: interferon induced with helicase C domain 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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