The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Abnormality of the skin||90%|
|Lower limb asymmetry||90%|
|Telangiectasia of the skin||90%|
|Abnormality of coagulation||50%|
|Abnormality of the tricuspid valve||50%|
|Abnormality of the menstrual cycle||7.5%|
|Abnormality of the pulmonary artery||7.5%|
|Atria septal defect||7.5%|
|Congestive heart failure||7.5%|
|Macrodactyly of finger||7.5%|
|Patent ductus arteriosus||7.5%|
|Peripheral arteriovenous fistula||7.5%|
|Abnormality of blood and blood-forming tissues||-|
|Hyperpigmented nevi and streak||-|
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
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I am pregnant with my second child. My first child was diagnosed with Klippel Trenaunay Weber syndrome in utero when I was 26 weeks pregnant. What are the chances that the child I am carrying now and my future children could have this same disease? I'm so worried that my son could have this disease. See answer
At an adult age, can this syndrome cause pain in the limb that has abnormal growth? See answer
Is there a cure or treatment for this condition? See answer
How does Klippel Trenaunay syndrome (KTS) occur? How, if it is not inherited, does it come about? Which gene is associated with it? See answer