16q24.3 microdeletion syndrome
ORPHA: 261250
Overview
16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder.
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 16q24.3 microdeletion syndrome, sourced from HPO and Orphanet clinical annotations.
High foreheadProtruding earAutismWide mouthHigh palatePointed chinSmooth philtrumLong philtrumMicrognathiaOptic nerve hypoplasiaSeizureFrontal bossingHypoplasia of the corpus callosumVentriculomegalyModerate intellectual disabilityPeriventricular heterotopiaColpocephalyCryptorchidismLong faceTriangular faceHearing impairmentPreauricular skin tagChronic otitis mediaAnteverted naresAstigmatismStrabismusVisual impairmentMyopiaUpslanted palpebral fissureNystagmusDelayed speech and language developmentHip dysplasiaVentricular septal defectDilated cardiomyopathyMitral regurgitationThrombocytopeniaDysphagiaHighly arched eyebrowScoliosisKyphosisBiparietal narrowingIncreased mean corpuscular volumeSolitary median maxillary central incisorProximal placement of thumbAbnormal hair patternFeeding difficultiesThick vermilion border
Classification & Codes
Orphanet Code
ORPHA:26125016q24.3 microdeletion syndrome
| Orphanet | ORPHA:261250 |
| Treatments | 0 drug(s) |
| Symptoms on record | 47 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO