chromosome 2q32-q33 deletion syndrome
MeSH: C567350ORPHA: 251019
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 2q32-q33 deletion syndrome, sourced from HPO and Orphanet clinical annotations.
Narrow mouthCleft palateHigh palateThin vermilion borderBrachycephalyMicrocephalyLong faceFacial asymmetryLong philtrumMicrognathiaHigh foreheadLow-set earsProminent nasal bridgeConvex nasal ridgeAnteverted naresStrabismusDownslanted palpebral fissuresOligodontiaDental crowdingAutismAggressive behaviorAnxietyDelayed speech and language developmentArachnodactylyHypotoniaGlobal developmental delayGrowth delayTalipes equinovarusToe clinodactylyFine hairSleep disturbanceIncomprehensible speechClinodactyly of the 5th fingerShort statureAttention deficit hyperactivity disorderSparse hairDecreased testicular sizeBroad hallux phalanxSevere intellectual disabilityBroad thumbFeeding difficultiesConspicuously happy dispositionJoint hypermobility
Classification & Codes
MeSH Code
C567350Orphanet Code
ORPHA:251019chromosome 2q32-q33 deletion syndrome
| MeSH | C567350 |
| Orphanet | ORPHA:251019 |
| Treatments | 0 drug(s) |
| Symptoms on record | 43 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO