Turner syndrome
ICD-10: Q96MeSH: D014424ORPHA: 881
Overview
chromosomal variation where a person is born with a 45X chromosome pattern rather than the typical 46XX
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 Turner syndrome, sourced from HPO and Orphanet clinical annotations.
Abnormal pinna morphologyThyroiditisGonadoblastomaGastrointestinal angiodysplasiaCirrhosisInflammation of the large intestineBiliary cirrhosisAortic dissectionMelanomaHypoplastic left ventricleGastrointestinal inflammationArterial dissectionRenal hypoplasia/aplasiaNeurodevelopmental delayElevated circulating hepatic transaminase concentrationAortic arch aneurysmDermatoglyphic ridges abnormalEnlargement of the distal femoral epiphysisIrregular proximal tibial epiphysesAbnormal dermatoglyphicsNeck pterygiaShort 4th metacarpalShort 5th metacarpalHypermobility of toe jointsHorseshoe kidneyEctopic kidneyAbnormality of the dentitionEpicanthusCystic hygromaStrabismusPtosisMyopiaDepressionPectus excavatumHyperinsulinemiaAtypical scarring of skinMelanocytic nevusLymphedemaVitiligoAbnormal fingernail morphologyHip dysplasiaHepatic fibrosisAlopeciaAtrial septal defectBicuspid aortic valveProlonged QT intervalMyocardial infarctionCoarctation of aortaPes planusHyperconvex fingernailsShort toeCeliac diseaseCholestatic liver diseaseScoliosisAutoimmunityMadelung deformityInverted nipplesNevusReduced bone mineral densityNumerous congenital melanocytic neviType II diabetes mellitusAttention deficit hyperactivity disorderAplasia/Hypoplasia of the mandibleSplayed toesDelayed early-childhood social milestone developmentGonadal dysgenesisAbnormality of the ovaryShort neckDelayed pubertyIncreased circulating gonadotropin levelShort sternumOsteopeniaOsteoporosisGrowth delayIntrauterine growth retardationDelayed skeletal maturationCubitus valgusHigh, narrow palateHigh urinary gonadotropin levelShort statureWide intermamillary distanceAplasia/Hypoplasia of the nipplesPremature ovarian insufficiencyFemale infertilityPostnatal growth retardationIncreased upper to lower segment ratioAbnormal forearm bone morphologyEnlarged thoraxHigh palateRetrognathiaMicrognathiaHearing impairmentLow-set earsRecurrent otitis mediaWebbed neckThickened nuchal skin foldBroad neckAtypical behaviorAnxietyAbnormal nonverbal communicative behaviorPrimary amenorrheaHypertensionSecondary amenorrheaHashimoto thyroiditisShield chestSpecific learning disabilityHepatic steatosisObesityFailure to thrive in infancyHypoplastic toenailsGlucose intoleranceAbnormal facial shapeLow posterior hairlineKyphosisGenu valgum
Classification & Codes
ICD-10 Code
Q96MeSH Code
D014424Orphanet Code
ORPHA:881Turner syndrome
| ICD-10 | Q96 |
| MeSH | D014424 |
| Orphanet | ORPHA:881 |
| Treatments | 0 drug(s) |
| Symptoms on record | 115 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO