GTR Home > Conditions/Phenotypes > Atelosteogenesis type 2

Summary

Excerpted from the GeneReview: Atelosteogenesis Type 2
Clinical features of atelosteogenesis type 2 (AO2) include rhizomelic limb shortening with normal-sized skull, hitchhiker thumbs, small chest, protuberant abdomen, cleft palate, and distinctive facial features (midfaceretrusion, depressed nasal bridge, epicanthus, micrognathia). Other typical findings are ulnar deviation of the fingers, gap between the first and second toes, and clubfoot. AO2 is lethal at birth or shortly thereafter because of pulmonary hypoplasia and tracheobronchomalacia.

Available tests

49 tests are in the database for this condition.

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Genes See tests for all associated and related genes

  • Also known as: D5S1708, DTD, DTDST, EDM4, MST153, MSTP157, SLC26A2
    Summary: solute carrier family 26 member 2

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