congenital ichthyosis-microcephalus-tetraplegia syndrome
ORPHA: 2271
Overview
human 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 congenital ichthyosis-microcephalus-tetraplegia syndrome, sourced from HPO and Orphanet clinical annotations.
MicrocephalyAbnormality of the faceDry skinHyperreflexiaTetraplegiaAbnormality of the musculaturePain insensitivityIchthyosis
Classification & Codes
Orphanet Code
ORPHA:2271congenital ichthyosis-microcephalus-tetraplegia syndrome
| Orphanet | ORPHA:2271 |
| Treatments | 0 drug(s) |
| Symptoms on record | 8 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO