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upper limb defect-eye and ear abnormalities syndrome

MeSH: C564769ORPHA: 2489

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 upper limb defect-eye and ear abnormalities syndrome, sourced from HPO and Orphanet clinical annotations.

Hearing impairmentChorioretinal colobomaGlobal developmental delayIntrauterine growth retardationDelayed skeletal maturationAbnormal antihelix morphologyHypoplasia of the antihelixShort thumbShort metacarpalCryptorchidismEpicanthusCataract

Classification & Codes

MeSH Code

C564769

Orphanet Code

ORPHA:2489
upper limb defect-eye and ear abnormalities syndrome
MeSHC564769
OrphanetORPHA:2489
Treatments0 drug(s)
Symptoms on record12 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO