Craniotelencephalic dysplasia
MeSH: C535597ORPHA: 1528
Overview
disease
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 Craniotelencephalic dysplasia, sourced from HPO and Orphanet clinical annotations.
Global developmental delayCraniosynostosisFrontal bossingHydrocephalusMicrocephalyVisual impairmentMicrophthalmiaOptic atrophyAgenesis of corpus callosumCerebellar hypoplasiaLissencephalyArrhinencephalyFrontoethmoidal encephaloceleSepto-optic dysplasiaPosteriorly rotated ears
Classification & Codes
MeSH Code
C535597Orphanet Code
ORPHA:1528Craniotelencephalic dysplasia
| MeSH | C535597 |
| Orphanet | ORPHA:1528 |
| Treatments | 0 drug(s) |
| Symptoms on record | 15 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO