tetrasomy 5p
ORPHA: 3309
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 tetrasomy 5p, sourced from HPO and Orphanet clinical annotations.
SeizureGlobal developmental delayNeonatal hypotoniaCerebellar hypoplasiaCongestive heart failureOverlapping toePulmonary arterial hypertensionShort nosePericallosal lipomaMidface retrusionFlat faceLong fingersHypertelorismLong philtrumLow-set earsWide nasal bridgeShort neckUpslanted palpebral fissureFailure to thriveTalipes equinovarusRespiratory distressRecurrent respiratory infectionsClinodactyly of the 5th fingerPreauricular pitRedundant neck skinPostnatal growth retardationShort halluxHeart murmurHigh palateWide anterior fontanelEpicanthusWeak cryPulmonary hypoplasiaDepigmentation/hyperpigmentation of skinAplasia/Hypoplasia of the abdominal wall musculatureHydrocephalusMacrocephalyCoarse facial featuresFull cheeksMicrognathiaPosteriorly rotated earsAnteverted naresPectus excavatumCyanosis
Classification & Codes
Orphanet Code
ORPHA:3309tetrasomy 5p
| Orphanet | ORPHA:3309 |
| Treatments | 0 drug(s) |
| Symptoms on record | 44 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO