polysyndactyly-cardiac malformation syndrome

MeSH: C564875ORPHA: 2934

Overview

facial dysmorphism, hepatic cysts)

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 polysyndactyly-cardiac malformation syndrome, sourced from HPO and Orphanet clinical annotations.

SyndactylyAbnormal heart morphologyPolydactylyHypertelorismMicrognathiaLow-set earsBulbous noseAnteverted naresPolyhydramniosVentricular septal defectAtrial septal defectMalformation of the hepatic ductal plateEpicanthusCataractMicrophthalmiaRenal cortical cystsTetralogy of FallotVitreous hemorrhage

Classification & Codes

MeSH Code

C564875

Orphanet Code

ORPHA:2934
polysyndactyly-cardiac malformation syndrome
MeSHC564875
OrphanetORPHA:2934
Treatments0 drug(s)
Symptoms on record18 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO