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ichthyosis-intellectual disability-dwarfism-renal impairment syndrome

MeSH: C536274ORPHA: 2278

Contents

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

Overview

genetic disorder

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-intellectual disability-dwarfism-renal impairment syndrome, sourced from HPO and Orphanet clinical annotations.

Intellectual disabilityFailure to thriveSevere short statureCongenital nonbullous ichthyosiform erythrodermaAbnormality of the dentitionCataractAbnormal fingernail morphologyAminoaciduriaPremature ovarian insufficiency

Classification & Codes

MeSH Code

C536274

Orphanet Code

ORPHA:2278
ichthyosis-intellectual disability-dwarfism-renal impairment syndrome
MeSHC536274
OrphanetORPHA:2278
Treatments0 drug(s)
Symptoms on record9 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO