Tetrasomy 9p
MeSH: C538027ORPHA: 3310
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 9p, sourced from HPO and Orphanet clinical annotations.
Median cleft palateConvex nasal ridgeHypertelorismMicrognathiaAbnormal earlobe morphologyStrabismusDeeply set eyeDownslanted palpebral fissuresMyopiaAmblyopiaDelayed speech and language developmentGlobal developmental delayPilomatrixomaRecurrent urinary tract infectionsCryptorchidismRenal dysplasiaHydronephrosisCleft palateBifid uvulaHigh palateHydrocephalusLarge fontanellesEpicanthusBulbous noseShort neckAbnormal chorioretinal morphologyExotropiaNystagmusDental crowdingAbnormal dental enamel morphologyInfertilityOligozoospermiaHypoplastic scapulaeMissing ribsJaundiceSacral dimpleSeizureGeneralized hypotoniaPachygyriaDandy-Walker malformationSpecific learning disabilityArthritisJoint dislocationIntrauterine growth retardationHemihypertrophyAbnormal mitral valve morphologyAbnormal cardiac septum morphologyPericarditisTalipes equinovarusPolymicrogyriaAbnormal spinal cord morphologyDownturned corners of mouthSystemic lupus erythematosusClinodactyly of the 5th fingerMultiple renal cystsBiliary atresiaAplasia/Hypoplasia of the claviclesBilateral single transverse palmar creasesAbnormal number of permanent teethAbsent gallbladderFatigueSmall toeRaynaud phenomenonGlue earMyositisSmall handMicropenisHorseshoe kidneyMacrocephalyShort philtrumAmelogenesis imperfectaInappropriate behaviorAutistic behaviorHyperactivityLissencephalyUmbilical herniaDextrocardiaPatent foramen ovalePulmonary hypoplasiaPulmonary arterial hypertensionJuxtaductal coarctation of the aortaFeeding difficulties
Classification & Codes
MeSH Code
C538027Orphanet Code
ORPHA:3310Tetrasomy 9p
| MeSH | C538027 |
| Orphanet | ORPHA:3310 |
| Treatments | 0 drug(s) |
| Symptoms on record | 82 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO