| H01788 | |
| H number | H01788 |
| Name | Klippel-Trenaunay-Weber syndrome |
| Description | Klippel-Trenaunay-Weber syndrome is a rare congenital syndrome, consisting of vascular malformation of blood and lymph vessels. This disease is characterized by a classic triad of cutaneous hemangiomas, varicose veins, and bone or soft tissue hypertrophy causing limb asymmetry. Clinical presentation may vary from being asymptomatic to developing potentially life-threatening complications, such as deep vein thrombosis (DVT), pulmonary embolism (PE), and recurrent bleeding. Most cases arise from sporadic mutations in one or more genes involved in early embryonic angiogenesis. |
| Category | Congenital malformation |
| Network | - |
| Gene | - |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD26.60 ICD-10: Q87.2 MeSH: D007715 OMIM: 149000 |
| Reference | PMID:26615353 AUTHORS Bhat L, Bisht S, Khanijo K TITLE Klippel-Trenaunay-Weber Syndrome with Kasabach-Merritt Coagulopathy and Hydronephrosis. JOURNAL Indian Pediatr 52:987-8 (2015) DOI:10.1007/s13312-015-0760-5 PMID:25293688 AUTHORS Ricks CB, Grandhi R, Ducruet AF TITLE Klippel-Trenaunay syndrome and cavernous malformations. JOURNAL BMJ Case Rep 2014:bcr2014207486 (2014) DOI:10.1136/bcr-2014-207486 PMID:23799311 AUTHORS Oduber CE, van Beers EJ, Bresser P, van der Horst CM, Meijers JC, Gerdes VE TITLE Venous thromboembolism and prothrombotic parameters in Klippel-Trenaunay syndrome. JOURNAL Neth J Med 71:246-52 (2013) |