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Bart-Pumphrey syndrome

MeSH: C537210ORPHA: 2698

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 Bart-Pumphrey syndrome, sourced from HPO and Orphanet clinical annotations.

LeukonychiaCongenital sensorineural hearing impairmentKnuckle padPalmoplantar hyperkeratosisPalmoplantar keratodermaMixed hearing impairmentHyperkeratotic papule

Classification & Codes

MeSH Code

C537210

Orphanet Code

ORPHA:2698
Bart-Pumphrey syndrome
MeSHC537210
OrphanetORPHA:2698
Treatments0 drug(s)
Symptoms on record7 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO