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GTR Home > Conditions/Phenotypes > Auriculocondylar syndrome 3

Auriculocondylar syndrome 3

Summary

Auriculocondylar syndrome (ARCND) is a rare craniofacial disorder involving first and second pharyngeal arch derivatives and includes the key features of micrognathia, temporomandibular joint and condyle anomalies, microstomia, prominent cheeks, and question mark ears (QMEs). QMEs consist of a defect between the lobe and the upper two-thirds of the pinna, ranging from a mild indentation in the helix to a complete cleft between the lobe and helix (summary by Gordon et al., 2013). For a general phenotypic description and discussion of genetic heterogeneity of auriculocondylar syndrome, see ARCND1 (602483). [from OMIM]

Available tests

10 tests are in the database for this condition.

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Clinical tests (10 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ARCND3, ET1, HDLCQ7, PPET1, QME, EDN1
    Summary: endothelin 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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