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renal coloboma syndrome

MeSH: C537168ORPHA: 1475

Contents

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

Overview

autosomal dominant disease characterized by optic nerve coloboma and renal 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 renal coloboma syndrome, sourced from HPO and Orphanet clinical annotations.

Joint hypermobilityRenal insufficiencyOptic nerve dysplasiaMulticystic kidney dysplasiaVesicoureteral refluxRenal hypoplasiaRenal dysplasiaVisual impairmentMyopiaHearing impairmentRetinal colobomaStrabismusOptic disc colobomaNystagmus

Classification & Codes

MeSH Code

C537168

Orphanet Code

ORPHA:1475
renal coloboma syndrome
MeSHC537168
OrphanetORPHA:1475
Treatments0 drug(s)
Symptoms on record14 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO