iniencephaly
ICD-10: Q00.2ORPHA: 63259
Overview
rare form of neural tube defect in which a malformation of the cervico-occipital junction is associated with a malformation of the central nervous system
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 iniencephaly, sourced from HPO and Orphanet clinical annotations.
RhizomeliaSpinal dysraphismNarrow mouthLow-set earsHoloprosencephalyGastroschisisPolyhydramniosRocker bottom footAnencephalySpina bifidaHyperlordosisAbsent vertebraMandibular aplasiaAbnormal cardiovascular system morphologyAbnormality of the genital systemRenal agenesisOrofacial cleftHydrocephalusCystic hygromaCongenital diaphragmatic herniaDandy-Walker malformationLissencephalyOmphaloceleTalipes equinovarusAnal atresiaEncephaloceleDuodenal atresiaMyelomeningoceleArthrogryposis multiplex congenitaSyringomyeliaAbnormal occipital bone morphology
Classification & Codes
ICD-10 Code
Q00.2Orphanet Code
ORPHA:63259iniencephaly
| ICD-10 | Q00.2 |
| Orphanet | ORPHA:63259 |
| Treatments | 0 drug(s) |
| Symptoms on record | 31 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO