Polyvalvular heart disease syndrome
ORPHA: 228410
Overview
Polyvalvular heart disease syndrome is a recently described syndrome characterized by the combination of polyvalvular heart disease, short stature, facial anomalies and intellectual deficit
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with Polyvalvular heart disease syndrome, sourced from HPO and Orphanet clinical annotations.
High palateDolichocephalyLong faceShort philtrumBroad foreheadMicrognathiaLow-set earsAbnormal pinna morphologyProminent nosePtosisDental crowdingAbnormality of the skinIntellectual disabilityMitral valve prolapsePulmonic stenosisAortic valve stenosisAbnormal heart valve morphologySudden deathDelayed skeletal maturationShort statureTricuspid regurgitationArrhythmiaJoint hypermobility
Classification & Codes
Orphanet Code
ORPHA:228410Polyvalvular heart disease syndrome
| Orphanet | ORPHA:228410 |
| Treatments | 0 drug(s) |
| Symptoms on record | 23 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO