cholestasis-pigmentary retinopathy-cleft palate syndrome
MeSH: C535632ORPHA: 1415
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 cholestasis-pigmentary retinopathy-cleft palate syndrome, sourced from HPO and Orphanet clinical annotations.
Orofacial cleftPreauricular skin tagPreauricular pitAbnormal pinna morphologyPigmentary retinopathyCardiomyopathyCoarctation of aortaIntestinal malrotationAbnormality of the biliary systemShort statureAbnormal gallbladder morphologyCyst of the ductus choledochusVesicoureteral refluxHydronephrosisVaginal atresiaCongenital diaphragmatic herniaVentricular septal defectAtrial septal defectPatent ductus arteriosusConstipationAnal atresiaMeckel diverticulumAortic aneurysmEctopic ureteral orifice
Classification & Codes
MeSH Code
C535632Orphanet Code
ORPHA:1415cholestasis-pigmentary retinopathy-cleft palate syndrome
| MeSH | C535632 |
| Orphanet | ORPHA:1415 |
| Treatments | 0 drug(s) |
| Symptoms on record | 24 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO