polysyndactyly-cardiac malformation syndrome
Findings
No curated finding names polysyndactyly-cardiac malformation syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Polysyndactyly-cardiac malformation syndrome is characterized by polysyndactyly, hexadactyly (duplication of the first toe) and complex cardiac malformation (including atrial and ventricular septal defect, single ventricle, aortic dextroposition, or dilation of the right heart). It has been described in six patients from three unrelated families. Other manifestations were present in some patients (i.e. facial dysmorphism, hepatic cysts).
Definition from the Mondo Disease Ontology (MONDO:0009900), read 2026-09-29. CC BY 4.0.
Features
18 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 heart morphologyHPOHP:0001627
- Very frequent (80% to 99% of cases)
- PolydactylyHPOHP:0010442
- Very frequent (80% to 99% of cases)
- SyndactylyHPOHP:0001159
- Very frequent (80% to 99% of cases)
- Anteverted naresHPOHP:0000463
- Frequent (30% to 79% of cases)
- Atrial septal defectHPOHP:0001631
- Frequent (30% to 79% of cases)
- Bulbous noseHPOHP:0000414
- Frequent (30% to 79% of cases)
- Hypertelorism
Show the remaining 6
- CataractHPOHP:0000518
- Occasional (5% to 29% of cases)
- EpicanthusHPOHP:0000286
- Occasional (5% to 29% of cases)
- MicrophthalmiaHPOHP:0000568
- Occasional (5% to 29% of cases)
- Renal cortical cystsHPOHP:0000803
- Occasional (5% to 29% of cases)
- Tetralogy of FallotHPOHP:0001636
- Occasional (5% to 29% of cases)
- Vitreous hemorrhageHPOHP:0007902
- Occasional (5% to 29% of cases)
Where it sits
Other names
1 name
Resolves to: polysyndactyly-cardiac malformation syndrome
- Also called
- Bonneau syndrome