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Sjogren-Larsson syndrome

ICD-10: Q87.1MeSH: D016111ORPHA: 2632

Contents

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

Overview

autosomal recessive form of ichthyosis apparent at birth

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 Sjogren-Larsson syndrome, sourced from HPO and Orphanet clinical annotations.

High palateAbnormal carpal morphologyMicromeliaMadelung deformitySevere short statureMesomelic/rhizomelic limb shorteningAbnormal epiphysis morphologyBowing of the long bonesAplasia/Hypoplasia of the fibulaDisproportionate short-limb short statureUlnar deviation of fingerAbnormal morphology of ulnaShort femoral neckDiarrhea

Classification & Codes

ICD-10 Code

Q87.1

MeSH Code

D016111

Orphanet Code

ORPHA:2632
Sjogren-Larsson syndrome
ICD-10Q87.1
MeSHD016111
OrphanetORPHA:2632
Treatments0 drug(s)
Symptoms on record14 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO