C syndrome
MeSH: C537418ORPHA: 1308
Overview
C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability
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 C syndrome, sourced from HPO and Orphanet clinical annotations.
Posteriorly rotated earsCryptorchidismGingival overgrowthHigh palateTrigonocephalyMicrocephalyEpicanthusSmooth philtrumLong philtrumMicrognathiaAnteverted naresShort neckUpslanted palpebral fissureIntellectual disabilityShort noseClinodactyly of the 5th fingerBiparietal narrowingDepressed nasal bridgeFemale pseudohermaphroditismHypoplasia of the ear cartilageAccessory oral frenulumThin vermilion borderStrabismusPectus excavatumSacral dimpleSeizureHypotoniaJoint dislocationLimitation of joint mobilityFailure to thrive in infancyRedundant skinTalipesMicromeliaDislocated radial headShort statureAbnormality of the anusBilateral single transverse palmar creasesMidline facial capillary hemangiomaAbnormality of immune system physiologyAbnormal cardiovascular system morphologyMulticystic kidney dysplasiaHorseshoe kidneyCleft palateCongenital diaphragmatic herniaHand polydactylyOmphalocelePolyhydramniosToe syndactylyConstipationAplasia/Hypoplasia of the corpus callosumRenal hypoplasia/aplasiaAplasia/Hypoplasia of the abdominal wall musculatureAbnormal hair pattern
Classification & Codes
MeSH Code
C537418Orphanet Code
ORPHA:1308C syndrome
| MeSH | C537418 |
| Orphanet | ORPHA:1308 |
| Treatments | 0 drug(s) |
| Symptoms on record | 53 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO