Cause | Notes | Reference(s) |
---|---|---|
Mitochondrial dysfunction | Patients typically have clinical features consistent with mitochondrial dysfunction (though these may not be apparent until long after the malformations associated with VACTERL association have been discovered) | |
Pathogenic copy number variations | Many different deletions/duplications have been reported*, though the evidence for causation of VACTERL association-type features is not uniformly clear. Clinical features in patients with large genomic imbalances often include malformations and medical issues not commonly seen in VACTERL association (such as neurocognitive impairment) | |
Heterozygous mutations in HOXD13 | Described in one patient; mutations in HOXD13 are more typically reported as resulting in limb and/or urogenital anomalies | |
Heterozygous/ hemizygous mutations in ZIC3 | Clinical features may or may not include obvious heterotaxy/situs abnormalitites |