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GTR Home > Conditions/Phenotypes > Rothmund-Thomson syndrome, type 3

Rothmund-Thomson syndrome, type 3

Synonyms
Short stature with microcephaly and distinctive facies

Summary

Rothmund-Thomson syndrome type 3 (RTS3) is characterized by poikiloderma, sparse hair, short stature, and skeletal defects. Patients also exhibit microcephaly, with moderate to severe neurodevelopmental delay and seizures (Averdunk et al., 2023). For a general phenotypic description and discussion of genetic heterogeneity of Rothmund-Thomson syndrome, see RTS2 (268400). [from OMIM]

Available tests

17 tests are in the database for this condition.

Clinical tests (17 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: HSPC139, RTS3, SSMDF, CRIPT
    Summary: CXXC repeat containing interactor of PDZ3 domain

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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