/patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome

patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome

Rare Disease

MONDO:0011454

Also Known As

patent arterial duct-bicuspid aortic valve-hand anomalies syndromepatent ductus arteriosus and bicuspid aortic valve with hand anomalies

Definition

Patent ductus arteriosus - bicuspid aortic valve - hand anomalies syndrome is a very rare heart-hand syndrome that is characterized by a variety of cardiovascular anomalies including patent arterial duct, bicuspid aortic valve and pseudocoarctation of the aorta in conjunction with hand anomalies such as brachydactyly and ulnar ray derivative i.e. fifth metacarpal hypoplasia. Transmission is most likely autosomal dominant.