chromosome 3q29 microdeletion syndrome
MeSH: C567184ORPHA: 65286
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 3q29 microdeletion syndrome, sourced from HPO and Orphanet clinical annotations.
HypospadiasHorseshoe kidneyAbnormality of the dentitionOrofacial cleftHigh palateEverted lower lip vermilionMicrocephalyMacrocephalyNarrow faceLong faceShort philtrumFacial asymmetryLow-set earsMacrotiaProminent nasal bridgeDownslanted palpebral fissuresCataractMicrophthalmiaDental crowdingPsychosisDepressionAutismAggressive behaviorAnxietyDelayed speech and language developmentPectus excavatumPectus carinatumAbnormality of skin pigmentationTapered fingerIntellectual disabilityGlobal developmental delayGait disturbanceFailure to thriveHypernasal speechPatent ductus arteriosusSubvalvular aortic stenosisGastroesophageal refluxPulmonary arterial hypertensionShort noseClinodactyly of the 5th fingerAttention deficit hyperactivity disorderBipolar affective disorderSix lumbar vertebraeJoint hypermobility
Classification & Codes
MeSH Code
C567184Orphanet Code
ORPHA:65286chromosome 3q29 microdeletion syndrome
| MeSH | C567184 |
| Orphanet | ORPHA:65286 |
| Treatments | 0 drug(s) |
| Symptoms on record | 44 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO