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GTR Home > Conditions/Phenotypes > Marbach-Rustad progeroid syndrome

Marbach-Rustad progeroid syndrome

Summary

Marbach-Rustad progeroid syndrome (MARUPS) is characterized by progeroid appearance with little subcutaneous fat and triangular facies, growth retardation with short stature, hypoplastic mandible crowded with unerupted supernumerary teeth, and cerebellar intention tremor. Psychomotor development is normal. Although features are reminiscent of Hutchinson-Gilford progeria syndrome (HGPS; 176670), MARUPS is less severe, with a relatively good prognosis. Two patients have been reported (Marbach et al., 2019). [from OMIM]

Available tests

1 test is in the database for this condition.

Clinical tests (1 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CTRCT42, LEM2, MARUPS, NET25, dJ482C21.1, LEMD2
    Summary: LEM domain nuclear envelope protein 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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