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10q22.3q23.3 microduplication syndrome

ORPHA: 276422

Contents

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

Overview

human 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 10q22.3q23.3 microduplication syndrome, sourced from HPO and Orphanet clinical annotations.

Deeply set eyeHypospadiasAmbiguous genitaliaAbnormality of the dentitionMicrocephalyAbnormality of the philtrumFull cheeksMicroretrognathiaBroad foreheadStrabismusUpslanted palpebral fissureHypotelorismIntellectual disabilityGlobal developmental delayAphasiaAbnormal cardiovascular system morphologyLow-set earsChronic otitis mediaAbnormal rib morphologyAbnormal clavicle morphologyTetralogy of Fallot

Classification & Codes

Orphanet Code

ORPHA:276422
10q22.3q23.3 microduplication syndrome
OrphanetORPHA:276422
Treatments0 drug(s)
Symptoms on record21 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO
10q22.3q23.3 microduplication syndrome | OrphanDrug