Toriello-Carey syndrome
MeSH: C563127ORPHA: 3338
Overview
Toriello Carey syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysmorphic features, cerebral anomalies, swallowing difficulties, cardiac defects and hypotonia
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 Toriello-Carey syndrome, sourced from HPO and Orphanet clinical annotations.
MicrognathiaAbnormal pinna morphologyTelecanthusIntellectual disabilityAbnormal corpus callosum morphologyShort noseShort palpebral fissureCryptorchidismAbnormal palate morphologyCleft palateWide anterior fontanelFull cheeksHearing impairmentShort neckHypotoniaAgenesis of corpus callosumAnteriorly placed anusAbnormal cardiac septum morphologyAganglionic megacolonShort statureHigh palateMicrocephalyLow-set earsThickened helicesNarrow chestBrachydactylySeizurePartial agenesis of the corpus callosumIntrauterine growth retardationAbnormality of the larynxCardiomyopathyPulmonic stenosisPatent ductus arteriosusCerebral atrophyHypoplasia of the corpus callosumVentriculomegalyNeonatal respiratory distressAplasia/Hypoplasia of the cerebellumFeeding difficulties in infancyPostnatal growth retardationClinodactylySparse eyebrowDandy-Walker malformationTetralogy of FallotCoarctation of aortaAnotia
Classification & Codes
MeSH Code
C563127Orphanet Code
ORPHA:3338Toriello-Carey syndrome
| MeSH | C563127 |
| Orphanet | ORPHA:3338 |
| Treatments | 0 drug(s) |
| Symptoms on record | 46 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO