chromosome 17q21.31 duplication syndrome
ORPHA: 217340
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 17q21.31 duplication syndrome, sourced from HPO and Orphanet clinical annotations.
Abnormality of the dentitionHigh palateMicrocephalyMalar flatteningEpicanthusShort philtrumMicrognathiaAbnormality of the outer earAnteverted naresThick eyebrowSynophrysAutismCompulsive behaviorsAutistic behaviorDelayed pubertyIntellectual disabilityHypotoniaGlobal developmental delayFailure to thriveToe syndactylySandal gapGeneralized hirsutismShort noseClinodactyly of the 5th fingerAttention deficit hyperactivity disorder
Classification & Codes
Orphanet Code
ORPHA:217340chromosome 17q21.31 duplication syndrome
| Orphanet | ORPHA:217340 |
| Treatments | 0 drug(s) |
| Symptoms on record | 25 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO