polyvalvular heart disease syndrome
MONDO:0016460Mondo
Findings
No curated finding names polyvalvular heart disease syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Polyvalvular heart disease syndrome is a recently described syndrome characterized by the combination of polyvalvular heart disease, short stature, facial anomalies and intellectual deficit.
Definition from the Mondo Disease Ontology (MONDO:0016460), read 2026-09-29. CC BY 4.0.
Features
23 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 valve morphologyHPOHP:0001654
- Very frequent (80% to 99% of cases)
- Delayed skeletal maturationHPOHP:0002750
- Very frequent (80% to 99% of cases)
- Mitral valve prolapseHPOHP:0001634
- Very frequent (80% to 99% of cases)
- Short statureHPOHP:0004322
- Very frequent (80% to 99% of cases)
- Abnormal pinna morphologyHPOHP:0000377
- Frequent (30% to 79% of cases)
- Broad foreheadHPOHP:0000337
- Frequent (30% to 79% of cases)
- Dental crowdingHPOHP:0000678
- Frequent (30% to 79% of cases)
- DolichocephalyHPOHP:0000268
- Frequent (30% to 79% of cases)
- High palateHPOHP:0000218
- Frequent (30% to 79% of cases)
- Intellectual disabilityHPOHP:0001249
- Frequent (30% to 79% of cases)
- Long faceHPOHP:0000276
- Frequent (30% to 79% of cases)
- Low-set earsHPOHP:0000369
- Frequent (30% to 79% of cases)
Show the remaining 11
- MicrognathiaHPOHP:0000347
- Frequent (30% to 79% of cases)
- Prominent noseHPOHP:0000448
- Frequent (30% to 79% of cases)
- PtosisHPOHP:0000508
- Frequent (30% to 79% of cases)
- Short philtrumHPOHP:0000322
- Frequent (30% to 79% of cases)
- Abnormality of the skinHPOHP:0000951
- Occasional (5% to 29% of cases)
- Aortic valve stenosisHPOHP:0001650
- Occasional (5% to 29% of cases)
Where it sits
Other names
1 name
Resolves to: polyvalvular heart disease syndrome
- Also called
- PHD syndrome