Noonan syndrome
MeSH: D009634ORPHA: 648
Overview
congenital, genetically widespread disease considered to be a type of dwarfism affecting boys and girls equally
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 Noonan syndrome, sourced from HPO and Orphanet clinical annotations.
Joint hypermobilityAbnormal pulmonary valve morphologyAbnormality of the spleenAbnormal bleedingAbnormality of coagulationLow posterior hairlineCoarse hairHepatomegalyScoliosisDelayed skeletal maturationAbnormal dermatoglyphicsFeeding difficulties in infancyAbnormal hair quantityArrhythmiaAbnormal platelet functionNeurodevelopmental delayAbnormality of the lymphatic systemSensorineural hearing impairmentNystagmusOsteopeniaBruising susceptibilityMelanocytic nevusLymphedemaBrachydactylyIntellectual disabilitySpecific learning disabilityAtrial septal defectHypertrophic cardiomyopathyCoarctation of aortaRadioulnar synostosisClinodactyly of the 5th fingerPostnatal growth retardationDilatation of the renal pelvisAplasia of the semicircular canalJuvenile myelomonocytic leukemiaDelayed menarchePatent ductus arteriosusHypogonadotropic hypogonadismThick lower lip vermilionHigh palateHypertelorismTriangular faceMicrognathiaHigh foreheadThickened helicesWebbed neckThickened nuchal skin foldCystic hygromaDownslanted palpebral fissuresPtosisProptosisPectus excavatumPectus carinatumDysarthriaMuscle weaknessAbnormal speech patternAbnormal EKGShort staturePulmonary artery stenosisWide intermamillary distanceAplasia/Hypoplasia of the abdominal wall musculatureMidface retrusionAbnormal cardiovascular system morphologyEnlarged thoraxCryptorchidismAbnormality of the genital systemStrabismusBlue iridesHypotoniaPosteriorly rotated ears
Classification & Codes
MeSH Code
D009634Orphanet Code
ORPHA:648Noonan syndrome
| MeSH | D009634 |
| Orphanet | ORPHA:648 |
| Treatments | 0 drug(s) |
| Symptoms on record | 70 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO