19p13.3 microduplication syndrome
ORPHA: 447980
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 19p13.3 microduplication syndrome, sourced from HPO and Orphanet clinical annotations.
MicrocephalyDelayed speech and language developmentGlobal developmental delayIntrauterine growth retardationAbnormal facial shapeNarrow mouthLong faceEpicanthusShort philtrumMicrognathiaLow-set earsProminent noseTelecanthusMyopiaMotor delayAbsent speechGrowth delayModerate intellectual disabilityThick vermilion borderLong fingersCleft palateSloping foreheadPosteriorly rotated earsUnderdeveloped nasal alaeDownslanted palpebral fissuresHypermetropiaUpslanted palpebral fissureAmblyopiaHorizontal nystagmusIrritabilityHyperactivityPrecocious pubertyOsteoporosisHip dysplasiaVentricular septal defectPes cavusConstipationGastroesophageal refluxCerebral atrophyPulmonary arterial hypertensionFebrile seizure (within the age range of 3 months to 6 years)Episodic vomitingKyphoscoliosisHip dislocationInverted nipplesMicrotiaSevere intellectual disabilityUnilateral cryptorchidismHip subluxationClinodactylySelf-injurious behavior
Classification & Codes
Orphanet Code
ORPHA:44798019p13.3 microduplication syndrome
| Orphanet | ORPHA:447980 |
| Treatments | 0 drug(s) |
| Symptoms on record | 51 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO