craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome
ORPHA: 171839
Available Treatments (0)
No treatments linked yet
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Clinical Presentation
Signs and symptoms associated with craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome, sourced from HPO and Orphanet clinical annotations.
CryptorchidismHypospadiasMicropenisRenal hypoplasiaRenal agenesisThin vermilion borderHydrocephalusLarge fontanellesBrachycephalyTurricephalyMalar flatteningHypertelorismBroad foreheadLong philtrumMicrognathiaHigh foreheadLow-set earsAnteverted naresBlepharophimosisPectus carinatumSeizureHypertoniaSpastic tetraparesisCraniosynostosisObesityUmbilical herniaLaryngomalaciaPatent ductus arteriosusToe syndactylyShort columellaCerebral atrophyChiari malformationModerate intellectual disabilityRadioulnar synostosisShort noseShort palmDepressed nasal bridgeBowing of the long bonesWide intermamillary distanceAbnormal septum pellucidum morphologyMicrotia
Classification & Codes
Orphanet Code
ORPHA:171839craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome
| Orphanet | ORPHA:171839 |
| Treatments | 0 drug(s) |
| Symptoms on record | 41 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO