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Dermotrichic syndrome

ORPHA: 99688

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 Dermotrichic syndrome, sourced from HPO and Orphanet clinical annotations.

Abnormal vertebral morphologyProportionate short statureDepressed nasal bridgeIchthyosisNail dystrophyHyperconvex toenailAnemiaAminoaciduriaShort noseMacrotiaBlepharophimosisHypohidrosisIntellectual disabilitySeizureFrontal bossingAganglionic megacolonEEG abnormality

Classification & Codes

Orphanet Code

ORPHA:99688
Dermotrichic syndrome
OrphanetORPHA:99688
Treatments0 drug(s)
Symptoms on record17 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO