chromosome 16p11.2 duplication syndrome
ORPHA: 370079
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 16p11.2 duplication syndrome, sourced from HPO and Orphanet clinical annotations.
Thin upper lip vermilionMicrocephalyHypertelorismSmooth philtrumDeeply set eyeSparse eyelashesDelayed speech and language developmentArachnodactylyIntellectual disabilityHypotoniaHyporeflexiaMotor delayTremorFailure to thriveShort statureMicrotiaSpeech articulation difficultiesFlat faceAbnormal basal ganglia MRI signal intensitySparse eyebrowDecreased body mass indexCompulsive behaviorsAutistic behaviorAnxietyGlobal developmental delayAttention deficit hyperactivity disorderAbnormal visual accommodationAutismCongenital diaphragmatic herniaSeizureFrontal bossingScoliosisBipolar affective disorderAbnormality of the hairlineUnderdeveloped supraorbital ridgesSchizophreniaMicropenisHemivertebrae
Classification & Codes
Orphanet Code
ORPHA:370079chromosome 16p11.2 duplication syndrome
| Orphanet | ORPHA:370079 |
| Treatments | 0 drug(s) |
| Symptoms on record | 38 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO