patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome
Findings
No curated finding names patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0011454), read 2026-09-29. CC BY 4.0.
Features
7 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal hand morphologyHPOHP:0005922
- Obligate (100% of cases)
- Bicuspid aortic valveHPOHP:0001647
- Obligate (100% of cases)
- Patent ductus arteriosusHPOHP:0001643
- Obligate (100% of cases)
- Pseudocoarctation of the aortaHPOHP:0005295
- Obligate (100% of cases)
- Clinodactyly of the 5th fingerHPOHP:0004209
- Very frequent (80% to 99% of cases)
- Short 5th metacarpalHPOHP:0010047
- Very frequent (80% to 99% of cases)
- Short digitHPO
Where it sits
Other names
1 name
Resolves to: patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome
- Also called
- patent arterial duct-bicuspid aortic valve-hand anomalies syndrome