arterial tortuosity syndrome
ICD-10: Q87.82MeSH: C565942ORPHA: 3342
Overview
connective tissue disease that is characterized by elongation and generalized tortuosity of the major arteries including the aorta
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 arterial tortuosity syndrome, sourced from HPO and Orphanet clinical annotations.
Congestive heart failureAortic root aneurysmVascular dilatationAortic aneurysmAbnormal carotid artery morphologyArterial stenosisTelangiectasia of the skinInguinal herniaLong faceHypertelorismMacrotiaThin skinHyperextensible skinCraniosynostosisAortic dissectionPulmonary artery stenosisAbnormal zygomatic bone morphologyFatigueFemoral herniaMacrocephalyMalar flatteningStrabismusMyopiaKeratoconusBlepharophimosisHypertensionKeratoglobusArachnodactylyIntellectual disabilityHypotoniaGlobal developmental delaySpecific learning disabilityHip dysplasiaRedundant skinAbnormal myocardium morphologyHypertrophic cardiomyopathyDilated cardiomyopathyMyocardial infarctionCardiac arrestRocker bottom footGastroesophageal refluxPyloric stenosisHiatus herniaDyspneaRespiratory distressScoliosisCoxa valgaCoxa varaHip dislocationRespiratory failureShort noseClinodactyly of the 5th fingerAvascular necrosis of the capital femoral epiphysisCardiorespiratory arrestPrematurely aged appearanceLong palmShort palpebral fissureMyocarditisEsophagitisJoint hypermobilityMedian cleft palate
Classification & Codes
ICD-10 Code
Q87.82MeSH Code
C565942Orphanet Code
ORPHA:3342arterial tortuosity syndrome
| ICD-10 | Q87.82 |
| MeSH | C565942 |
| Orphanet | ORPHA:3342 |
| Treatments | 0 drug(s) |
| Symptoms on record | 61 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO