chromosome 16p12.2-p11.2 deletion syndrome
ORPHA: 261211
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 chromosome 16p12.2-p11.2 deletion syndrome, sourced from HPO and Orphanet clinical annotations.
Open mouthOrofacial cleftLong faceEpicanthusMicroretrognathiaHigh foreheadHearing impairmentLow-set earsAbnormal pinna morphologyChronic otitis mediaBulbous noseAnteverted naresStrabismusDeeply set eyeDownslanted palpebral fissuresBlepharophimosisHypotelorismDelayed speech and language developmentHyperactivityHypotoniaGlobal developmental delayIntrauterine growth retardationToe syndactylyFrontal bossingGastroesophageal refluxModerate intellectual disabilitySleep disturbanceLong noseShort noseShort palmShort statureTricuspid regurgitationAbsent nasal bridgeImpaired pain sensationMultiple cafe-au-lait spotsBilateral single transverse palmar creasesProximal placement of thumbSleep apneaArrhythmiaFeeding difficultiesFlat faceTicsCamptodactyly of finger
Classification & Codes
Orphanet Code
ORPHA:261211chromosome 16p12.2-p11.2 deletion syndrome
| Orphanet | ORPHA:261211 |
| Treatments | 0 drug(s) |
| Symptoms on record | 43 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO