OrphanDrug
OrphanDrug
Pharma Knowledge Base

Corneodermatoosseous syndrome

MeSH: C536444ORPHA: 3194

Contents

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

Overview

Autosomal dominant condition causing eye and skeletal problems

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 Corneodermatoosseous syndrome, sourced from HPO and Orphanet clinical annotations.

PhotophobiaCarious teethAbnormal dental enamel morphologyPalmoplantar keratodermaThickened skinCorneal dystrophyBrachydactylyAbsent fingernailSevere short statureShort palmGingivitisAbnormality of the handAbnormal finger morphologyAbnormal fingernail morphologyPremature birthAbnormal metacarpal morphologyErythemaHearing impairmentNyctalopiaHemeralopia

Classification & Codes

MeSH Code

C536444

Orphanet Code

ORPHA:3194
Corneodermatoosseous syndrome
MeSHC536444
OrphanetORPHA:3194
Treatments0 drug(s)
Symptoms on record20 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO