Kapur–Toriello syndrome
MeSH: C537008ORPHA: 2328
Overview
Kapur-Toriello syndrome is an extremely rare syndrome characterized by facial dysmorphism, severe intellectual deficiency, cardiac and intestinal anomalies, and growth retardation
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 Kapur–Toriello syndrome, sourced from HPO and Orphanet clinical annotations.
Orofacial cleftPosteriorly rotated earsLow-set earsBulbous noseRetinal colobomaMicrophthalmiaIris colobomaIntellectual disabilityHypoplastic labia majoraShort neckFailure to thriveConstipationIntestinal malrotationHypoplasia of penisPreauricular skin tagAtresia of the external auditory canalPachygyriaVentricular septal defectTetralogy of FallotPatent ductus arteriosusPolymicrogyriaDysplastic corpus callosum
Classification & Codes
MeSH Code
C537008Orphanet Code
ORPHA:2328Kapur–Toriello syndrome
| MeSH | C537008 |
| Orphanet | ORPHA:2328 |
| Treatments | 0 drug(s) |
| Symptoms on record | 22 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO