NOTCH1-related AOS spectrum disorder

A disease characterized by a spectrum of cardiac and extracardiac phenotypes caused by a disease-causing variant in the NOTCH1 gene, inherited in an autosomal dominant manner. Affected individuals may present with congenital heart defects, bicuspid aortic valve, aortic valve stenosis, thoracic aortic aneurysm or dissection, anomalies in brain structure, intracranial or posterior circulation vascular anomalies, cutaneous vascular malformations, cutis marmorata, and/or a phenotype compatible with Adams-Oliver syndrome (i.e. cutis aplasia, terminal limb defects, skull ossification defects).

Definition from the Mondo Disease Ontology (MONDO:1060150), read 2026-09-29. CC BY 4.0.