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2q24 microdeletion syndrome

MeSH: C538316ORPHA: 1617

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 2q24 microdeletion syndrome, sourced from HPO and Orphanet clinical annotations.

Cleft palateShort neckDownslanted palpebral fissuresAbnormality iris morphologyAtypical behaviorHand clenchingIntellectual disabilitySeizureGlobal developmental delayNeonatal hypotoniaFailure to thriveGrowth delaySmall for gestational ageToe syndactylyBullet-shaped distal phalanx of the halluxSevere global developmental delayCamptodactyly of fingerLong fingersAbnormal oral frenulum morphologySmall faceHypertelorismShort philtrumCataractMicrophthalmiaColobomaAutistic behaviorCentral apneaPosteriorly rotated ears

Classification & Codes

MeSH Code

C538316

Orphanet Code

ORPHA:1617
2q24 microdeletion syndrome
MeSHC538316
OrphanetORPHA:1617
Treatments0 drug(s)
Symptoms on record28 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO