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GTR Home > Conditions/Phenotypes > Tetraamelia syndrome 2

Tetraamelia syndrome 2

Synonyms
TETRAAMELIA SYNDROME 2 WITH PULMONARY AGENESIS

Summary

Tetraamelia syndrome-2 (TETAMS2) is characterized by rudimentary appendages or complete absence of the limbs, usually symmetric, as well as bilateral agenesis of the lungs. There are abnormalities of the pulmonary vasculature and dysmorphic features, including bilateral cleft lip/palate, ankyloglossia, mandibular hypoplasia, microretrognathia, and labioscrotal fold aplasia (Szenker-Ravi et al., 2018). For a discussion of genetic heterogeneity of TETAMS, see 273395. [from OMIM]

Available tests

2 tests are in the database for this condition.

Clinical tests (2 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CRISTIN2, HHRRD, TETAMS2, RSPO2
    Summary: R-spondin 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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