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preaxial polydactyly-colobomata-intellectual disability syndrome

MeSH: C537888ORPHA: 2921

Contents

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

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 preaxial polydactyly-colobomata-intellectual disability syndrome, sourced from HPO and Orphanet clinical annotations.

Retinal colobomaChorioretinal colobomaIntellectual disabilityGlobal developmental delayPreaxial polydactylyStrabismusSeverely reduced visual acuityAngle closure glaucomaModerately reduced visual acuity

Classification & Codes

MeSH Code

C537888

Orphanet Code

ORPHA:2921
preaxial polydactyly-colobomata-intellectual disability syndrome
MeSHC537888
OrphanetORPHA:2921
Treatments0 drug(s)
Symptoms on record9 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO