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GTR Home > Conditions/Phenotypes > Cardioacrofacial dysplasia 2

Cardioacrofacial dysplasia 2

Summary

Cardioacrofacial dysplasia-2 (CAFD2) is characterized by congenital cardiac defects, primarily common atrium or atrioventricular septal defect; limb anomalies, including short limbs, brachydactyly, and postaxial polydactyly; and dysmorphic facial features. Developmental delay of variable severity has also been observed (Palencia-Campos et al., 2020). For a discussion of genetic heterogeneity of CAFD, see CAFD1 (619142). [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: CAFD2, PKA C-beta, PKACB, PRKACB
    Summary: protein kinase cAMP-activated catalytic subunit beta

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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