trisomy 1q
ORPHA: 261344
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 trisomy 1q, sourced from HPO and Orphanet clinical annotations.
Multicystic kidney dysplasiaCryptorchidismSmall scrotumAmbiguous genitaliaHydronephrosisNarrow mouthCleft palateHydrocephalusMacrocephalyMicroretrognathiaHypertelorismAbnormality of the outer earLow-set earsWide noseCystic hygromaDownslanted palpebral fissuresAnophthalmiaHypotelorismAbnormal rib morphologyCongenital diaphragmatic herniaArachnodactylyPreaxial hand polydactylyAgenesis of corpus callosumCerebellar hypoplasiaOmphalocelePolyhydramniosVentricular septal defectPatent ductus arteriosusToe syndactylyHydrops fetalisHypoplastic toenailsLong footFrontal bossingAnal atresiaVentriculomegalyDepressed nasal bridgeWide intermamillary distanceAplasia/Hypoplasia of the nailsCongenital megaureterShort thoraxIncreased nuchal translucencyCamptodactyly of finger
Classification & Codes
Orphanet Code
ORPHA:261344trisomy 1q
| Orphanet | ORPHA:261344 |
| Treatments | 0 drug(s) |
| Symptoms on record | 42 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO