Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome

Patent ductus arteriosus - bicuspid aortic valve - hand anomalies syndrome is a very rare heart-hand syndrome (see this term) 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.



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Matched Phenotype  Gene  Mutation  MeSH
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Phenotype(s) retrieved from Orphanet

    Total: 8

HPO ID Term Frequency
HP:0001643 Patent ductus arteriosus Obligate (100%)
HP:0001647 Bicuspid aortic valve Obligate (100%)
HP:0005295 Pseudocoarctation of the aorta Obligate (100%)
HP:0005922 Abnormal hand morphology Obligate (100%)
HP:0004209 Clinodactyly of the 5th finger Very frequent (99-80%)
HP:0010047 Short 5th metacarpal Very frequent (99-80%)
HP:0011927 Short digit Very frequent (99-80%)
HP:0000271 Abnormality of the face Excluded (0%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID