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coloboma of macula-brachydactyly type B syndrome

MeSH: C535969ORPHA: 1471

Contents

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

Overview

medical condition

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 coloboma of macula-brachydactyly type B syndrome, sourced from HPO and Orphanet clinical annotations.

Renal agenesisChorioretinal colobomaAbsent fingernailShort statureType B brachydactylyShort distal phalanx of fingerBroad thumbCamptodactyly of fingerFingernail dysplasia

Classification & Codes

MeSH Code

C535969

Orphanet Code

ORPHA:1471
coloboma of macula-brachydactyly type B syndrome
MeSHC535969
OrphanetORPHA:1471
Treatments0 drug(s)
Symptoms on record9 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO