craniofacial dyssynostosis
MeSH: C536455ORPHA: 1516
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 craniofacial dyssynostosis, sourced from HPO and Orphanet clinical annotations.
Abnormal oral cavity morphologyOpen mouthHydrocephalusMacrocephalyDolichocephalyEpicanthusHypertelorismShort philtrumFacial asymmetryMicrognathiaLow-set earsStenosis of the external auditory canalUnderdeveloped nasal alaeWide nasal bridgeShort neckStrabismusDownslanted palpebral fissuresNystagmusSacral dimpleNevus flammeusCraniosynostosisUmbilical herniaPatent ductus arteriosusFrontal bossingHypoplasia of the corpus callosumClinodactyly of the 5th fingerShort statureUnderdeveloped supraorbital ridgesSevere global developmental delay
Classification & Codes
MeSH Code
C536455Orphanet Code
ORPHA:1516craniofacial dyssynostosis
| MeSH | C536455 |
| Orphanet | ORPHA:1516 |
| Treatments | 0 drug(s) |
| Symptoms on record | 29 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO