16p13.11 microduplication syndrome
ORPHA: 261243
Overview
16p13.11 microduplication syndrome is a recently described syndrome associated with variable clinical features including behavioral abnormalities, developmental delay, congenital heart defects and skeletal anomalies.
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 16p13.11 microduplication syndrome, sourced from HPO and Orphanet clinical annotations.
DolichocephalyAutismAggressive behaviorPectus excavatumHand polydactylyArachnodactylyIntellectual disabilityGlobal developmental delayCraniosynostosisVentricular septal defectAtrial septal defectTetralogy of FallotTransposition of the great arteriesCoarctation of aortaPes planusLanguage impairmentAttention deficit hyperactivity disorderSchizophreniaJoint hypermobility
Classification & Codes
Orphanet Code
ORPHA:26124316p13.11 microduplication syndrome
| Orphanet | ORPHA:261243 |
| Treatments | 0 drug(s) |
| Symptoms on record | 19 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO