distal tetrasomy 15q
ORPHA: 314588
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 distal tetrasomy 15q, sourced from HPO and Orphanet clinical annotations.
High palateGlobal developmental delayGrowth abnormalityAbnormal facial shapeAbnormality of the kidneyHydronephrosisRetrognathiaHypertelorismMicrognathiaLow-set earsTelecanthusAbnormal skull morphologyHypotoniaSpecific learning disabilityCraniosynostosisLarge for gestational ageBirth length greater than 97th percentileHydrocele testisHorseshoe kidneyPolycystic kidney dysplasiaHydrocephalusCupped earSensorineural hearing impairmentStrabismusAbnormal sternum morphologyAbnormal external genitalia morphologyCorneal dystrophyArachnodactylyDandy-Walker malformationFlexion contractureIntrauterine growth retardationAbnormal heart morphologyAtrial septal defectPatent ductus arteriosusPulmonary hypoplasiaScoliosisNephroblastomaKyphosisSyringomyeliaMicrotiaDilatation of the renal pelvisAbnormal helix morphologyHypoplastic aortic archCamptodactylyHernia
Classification & Codes
Orphanet Code
ORPHA:314588distal tetrasomy 15q
| Orphanet | ORPHA:314588 |
| Treatments | 0 drug(s) |
| Symptoms on record | 45 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO