Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Arterial tortuosity, generalised
Always present (100%)HP:0004955
Abnormality of the carotid arteries
Very frequent (80-99%)HP:0005344
Aortic tortuosity
Very frequent (80-99%)HP:0006687
Arterial stenosis
Very frequent (80-99%)HP:0100545
Bulge in wall of large artery that carries blood away from heart
Very frequent (80-99%)HP:0004942
Enlarged aortic root
Very frequent (80-99%)HP:0002616
Heart failure
Very frequent (80-99%)HP:0001635
Teleangiectasia of the skin
Very frequent (80-99%)HP:0100585
Wider than typical opening or gap
Very frequent (80-99%)HP:0002617
Abnormal curving of the cornea or lens of the eye
Frequent (30-79%)HP:0000483
Anomaly of the zygomatic bone
Frequent (30-79%)HP:0010668
Aortic dissection
Frequent (30-79%)HP:0002647
Aortic stenosis
Frequent (30-79%)HP:0001650
Central cleft palate
Frequent (30-79%)HP:0009099
Deformity of the skull
Frequent (30-79%)HP:0001363
Diaphragmatic hernia
Frequent (30-79%)HP:0000776
Down-slanting palpebral fissure
Frequent (30-79%)HP:0000494
Femoral hernia
Frequent (30-79%)HP:0100541
Generalized elastolysis
Frequent (30-79%)HP:0000973
High arched palate
Frequent (30-79%)HP:0000218
Hooked nose
Frequent (30-79%)HP:0000444
Hypoplastic mandible
Frequent (30-79%)HP:0000347
Increased distance between eyes
Frequent (30-79%)HP:0000316
Inguinal hernia
Frequent (30-79%)HP:0000023
Joint instability
Frequent (30-79%)HP:0001382
Large ears
Frequent (30-79%)HP:0000400
Progeroid facial appearance
Frequent (30-79%)HP:0005328
Pulmonary artery stenosis
Frequent (30-79%)HP:0004415
Skin hyperelasticity
Frequent (30-79%)HP:0000974
Thin skin
Frequent (30-79%)HP:0000963
Quick Facts
- SNOMED CT
- 458432002
- UMLS CUI
- C1859726
- Fully Specified Name
- Arterial tortuosity syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.