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Edinburgh malformation syndrome

MeSH: C563051ORPHA: 1895

Contents

  1. 1. Overview
  2. 2. Available Treatments
  3. 3. Clinical Presentation
  4. 4. Classification & Codes

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 Edinburgh malformation syndrome, sourced from HPO and Orphanet clinical annotations.

Narrow mouthThin vermilion borderHydrocephalusMicrognathiaLow-set earsChoanal atresiaAnteverted naresSynophrysHirsutismBrushfield spotsSlender fingerIntellectual disabilitySeizureHypertoniaJoint stiffnessFailure to thriveAbnormality of the voiceFrontal bossingRespiratory insufficiencyLow posterior hairlineGeneralized hirsutismAbnormality of neuronal migrationDownturned corners of mouthShort noseAccelerated skeletal maturationAplasia/Hypoplasia affecting the eyeUlnar deviation of fingerLong fingers

Classification & Codes

MeSH Code

C563051

Orphanet Code

ORPHA:1895
Edinburgh malformation syndrome
MeSHC563051
OrphanetORPHA:1895
Treatments0 drug(s)
Symptoms on record28 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO