chromosome 3q29 microduplication syndrome
MeSH: C567626ORPHA: 251038
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 microduplication syndrome, sourced from HPO and Orphanet clinical annotations.
Abnormality of the dentitionCleft palateHigh palateLarge fontanellesMicrocephalyMacrocephalyHigh foreheadHearing impairmentLow-set earsWide nasal bridgeShort neckDownslanted palpebral fissuresCataractAniridiaMicrophthalmiaIris colobomaSclerocorneaIntellectual disabilitySeizureHypotoniaGlobal developmental delayCraniosynostosisObesityVentricular septal defectToe syndactylyCamptodactyly of toeSandal gapDeep philtrumEctopic anusBiparietal narrowing
Classification & Codes
MeSH Code
C567626Orphanet Code
ORPHA:251038chromosome 3q29 microduplication syndrome
| MeSH | C567626 |
| Orphanet | ORPHA:251038 |
| Treatments | 0 drug(s) |
| Symptoms on record | 30 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO