15q overgrowth syndrome
ORPHA: 314585
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 15q overgrowth syndrome, sourced from HPO and Orphanet clinical annotations.
Horseshoe kidneyHydronephrosisHigh palateRetrognathiaCoarse facial featuresMicroretrognathiaHypertelorismMicrognathiaAbnormality of the outer earPosteriorly rotated earsLow-set earsDownslanted palpebral fissuresTelecanthusArachnodactylyMotor delayNeonatal hypotoniaCraniosynostosisJoint hypermobilityIntrauterine growth retardationDisproportionate tall statureOvergrowthAbnormal facial shapeHigh, narrow palateEarly-onset non-progressive night blindnessUreterovesical stenosisContracture of the proximal interphalangeal joint of the 3rd fingerContracture of the proximal interphalangeal joint of the 2nd fingerAbnormal renal morphologyNeurodevelopmental delayBifid uvulaHydrocephalusMacrocephalyTurricephalyDolichocephalyMalar flatteningMandibular prognathiaSmooth philtrumMixed hearing impairmentWide nasal bridgeStrabismusAbnormality of the incisorDental crowdingAbnormal sternum morphologyLarge handsSeizureAgenesis of corpus callosumDandy-Walker malformationHyperreflexiaBreech presentationMitral regurgitationOverlapping toePulmonary arterial hypertensionHeadacheScoliosisNephroblastomaSyringomyeliaClinodactyly of the 5th fingerTricuspid regurgitationAbnormal finger flexion creaseWide intermamillary distanceAbnormal coccyx morphologyAbnormality of the falx cerebriBrain atrophyAbnormal cardiovascular system morphology
Classification & Codes
Orphanet Code
ORPHA:31458515q overgrowth syndrome
| Orphanet | ORPHA:314585 |
| Treatments | 0 drug(s) |
| Symptoms on record | 64 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO