CEDNIK syndrome
MeSH: C537943ORPHA: 66631
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 CEDNIK syndrome, sourced from HPO and Orphanet clinical annotations.
MicrocephalyLong faceHypertelorismProminent nasal bridgeDownslanted palpebral fissuresIntellectual disabilityAtaxiaGlobal developmental delayPoor head controlDiffuse palmoplantar hyperkeratosisIchthyosisAbnormality of eye movementOptic atrophyAbnormal corpus callosum morphologyAreflexiaPachygyriaPolymicrogyriaAbnormality of peripheral nerve conductionPeripheral neuropathyProteinuriaNephrotic syndromeHypogonadismAbnormality of the dentitionDolichocephalyMacrotiaSensorineural hearing impairmentDepressed nasal ridgeAbnormality of the eyeAbnormality of visionSeizureStrokeCongestive heart failureShort stature
Classification & Codes
MeSH Code
C537943Orphanet Code
ORPHA:66631CEDNIK syndrome
| MeSH | C537943 |
| Orphanet | ORPHA:66631 |
| Treatments | 0 drug(s) |
| Symptoms on record | 33 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO