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Kocher–Debré–Semelaigne syndrome

ICD-10: E03.1ORPHA: 2349

Contents

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

Overview

muscular pseudohypertrophy expressed in infancy or childhood

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 Kocher–Debré–Semelaigne syndrome, sourced from HPO and Orphanet clinical annotations.

MacroglossiaCoarse facial featuresHypothyroidismJaundiceGait disturbanceMuscle weaknessUmbilical herniaConstipationAbnormal speech patternSleep disturbanceMyopathyMyalgiaSkeletal muscle hypertrophyShort statureCognitive impairment

Classification & Codes

ICD-10 Code

E03.1

Orphanet Code

ORPHA:2349
Kocher–Debré–Semelaigne syndrome
ICD-10E03.1
OrphanetORPHA:2349
Treatments0 drug(s)
Symptoms on record15 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO
Kocher–Debré–Semelaigne syndrome | OrphanDrug