Cantú syndrome
MeSH: C535572ORPHA: 1517
Overview
osteochondrodysplasia characterized by congenital hypertrichosis, neonatal macrosomia, and cardiomegaly
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 Cantú syndrome, sourced from HPO and Orphanet clinical annotations.
Wide mouthMacrocephalyCoarse facial featuresEpicanthusLow anterior hairlineProminent supraorbital ridgesLong philtrumWide nasal bridgeAnteverted naresShort neckLong eyelashesThick eyebrowNarrow chestBroad ribsPlatyspondylyOsteoporosisAbnormal metaphysis morphologyMild intellectual disabilityUmbilical herniaHypertrophic cardiomyopathyCardiomegalyPatent ductus arteriosusAbnormal heart valve morphologyDeep plantar creasesLow posterior hairlineGeneralized hirsutismSkeletal dysplasiaCoxa valgaDelayed skeletal maturationOvoid vertebral bodiesCuboid-shaped vertebral bodiesAccelerated skeletal maturationFinger syndactylyCurly eyelashesShort distal phalanx of fingerBroad hallux phalanxShort halluxThick vermilion border
Classification & Codes
MeSH Code
C535572Orphanet Code
ORPHA:1517Cantú syndrome
| MeSH | C535572 |
| Orphanet | ORPHA:1517 |
| Treatments | 0 drug(s) |
| Symptoms on record | 38 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO