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Diaphragmatic hernia 4, with cardiovascular defects

Summary

Diaphragmatic hernia-4 with cardiovascular defects (DIH4) is an autosomal recessive congenital anomaly syndrome characterized by the presence of diaphragmatic hernia or eventration apparent at birth. Affected infants have associated pulmonary hypoplasia and respiratory insufficiency resulting in death in infancy. Most also have variable cardiovascular defects, including aortopulmonary window or conotruncal anomalies. Dysmorphic facial features and mild distal limb anomalies are sometimes observed (Beecroft et al., 2021). For a discussion of genetic heterogeneity of congenital diaphragmatic hernia (CDH), see DIH1 (142340). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: DIH4, RALDH(II), RALDH2, RALDH2-T, ALDH1A2
    Summary: aldehyde dehydrogenase 1 family member A2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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