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ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome

MeSH: C537364ORPHA: 2269

Contents

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

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 ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome, sourced from HPO and Orphanet clinical annotations.

Intellectual disabilityAbsent axillary hairAlopecia of scalpAbsent pubic hairCongenital alopecia totalisGeneralized ichthyosisEctropionDry skinCutis laxaGlobal developmental delayDelayed gross motor developmentUnsteady gaitGeneralized hyperkeratosisEclabionEpidermal acanthosisDelayed ability to walkScaling skinAbsent speechSparse eyebrow

Classification & Codes

MeSH Code

C537364

Orphanet Code

ORPHA:2269
ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome
MeSHC537364
OrphanetORPHA:2269
Treatments0 drug(s)
Symptoms on record19 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO