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Is Klippel-Trénaunay-Weber Syndrome hereditary?

Here you can see if Klippel-Trénaunay-Weber Syndrome can be hereditary. Do you have any genetic components? Does any member of your family have Klippel-Trénaunay-Weber Syndrome or may be more predisposed to developing the condition?

Is Klippel-Trénaunay-Weber Syndrome hereditary?

Klippel-Trénaunay-Weber Syndrome is a rare congenital disorder characterized by a triad of symptoms: port-wine stain birthmark, varicose veins, and abnormal growth of bones and soft tissues. The exact cause of this syndrome is unknown, but it is believed to occur sporadically rather than being inherited. However, in some cases, there may be a genetic component involved. Further research is needed to fully understand the inheritance patterns of this condition.



Klippel-Trénaunay-Weber Syndrome (KTWS) is a rare congenital disorder characterized by a triad of symptoms including port-wine stain birthmarks, varicose veins, and soft tissue and bone overgrowth. This condition was first described by French physicians Maurice Klippel and Paul Trénaunay, and later associated with the name of Frederick Parkes Weber, who contributed to its understanding.



One of the common questions that arise when discussing Klippel-Trénaunay-Weber Syndrome is whether it is hereditary. The answer to this question is not straightforward, as the syndrome can exhibit different inheritance patterns.



Genetic mutations have been identified in some cases of KTWS, suggesting a potential genetic component to the syndrome. However, the majority of cases are not inherited and occur sporadically, meaning they are not passed down from parents to their children.



When KTWS is caused by a genetic mutation, it is typically inherited in an autosomal dominant manner. This means that an affected individual has a 50% chance of passing the mutation on to each of their children. However, it is important to note that even if a parent has the genetic mutation, it does not guarantee that their child will develop the syndrome. The severity and presentation of the syndrome can vary widely among individuals, even within the same family.



Research has identified several genes that may be associated with Klippel-Trénaunay-Weber Syndrome, including PIK3CA and AKT1. These genes are involved in regulating cell growth and division, and mutations in these genes can lead to the characteristic overgrowth seen in KTWS. However, it is important to note that not all individuals with KTWS have identifiable genetic mutations, suggesting that other factors may contribute to the development of the syndrome.



While the genetic component of KTWS is still being studied, it is believed that environmental factors may also play a role in the development of the syndrome. These factors could include prenatal exposure to certain substances or events that disrupt normal development in utero. However, more research is needed to fully understand the interplay between genetics and the environment in the development of KTWS.



Given the complex nature of Klippel-Trénaunay-Weber Syndrome, it is recommended that individuals with a family history of the syndrome or those who have been diagnosed with the syndrome themselves consult with a genetic counselor or a medical geneticist. These healthcare professionals can provide personalized information and guidance regarding the potential inheritance patterns and risks associated with KTWS.



In conclusion, Klippel-Trénaunay-Weber Syndrome can have a genetic component, but the majority of cases are not inherited and occur sporadically. Genetic mutations have been identified in some cases, but not all individuals with KTWS have identifiable mutations. The syndrome may be inherited in an autosomal dominant manner, but the severity and presentation can vary widely. Environmental factors may also contribute to the development of KTWS. Consulting with a genetic counselor or medical geneticist can provide individuals and families with more specific information and guidance.


Diseasemaps
3 answers
It is not. I am the first person in my family to have been born with it. My wife has given birth to two healthy boys. The disease is caused by a non-hereditary genetic mutation.

Posted Oct 9, 2018 by Maxwelltreat 400
I do not know of anyone else who has KTWS like me, much less anyone in my family.
Joan, Sydney
[email protected]

Posted Jan 5, 2019 by joanette 100

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World map of Klippel-Trénaunay-Weber Syndrome

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Stories of Klippel-Trénaunay-Weber Syndrome

KLIPPEL-TRÉNAUNAY-WEBER SYNDROME STORIES
Klippel-Trénaunay-Weber Syndrome stories
Hi my name is Monet Pavey, i am 11 yrs old and was born with ktws. It affects my left leg. i am lucky as both of my legs are the same size. i wear a compression badage during the day to keep me safe from bleeding and the swelling down. The pain is a ...
Klippel-Trénaunay-Weber Syndrome stories
I was diagnosed with KTW from 3 days old. The whole right side of my body is affected along with one of my fingers and one of my toes on the left side of my body. My whole body suffers from Deep Vein Thrombosis and superficial thrombosis, lymphedema,...
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Klippel-Trénaunay-Weber Syndrome stories
Ian is my 12 year old son who was born with KTS.  We live in a very small town in Northwestern Minnesota. The Drs here have never heard or seen anything about this syndrome ever. The doctor was so concerned about it that he was actually panicking. ...
Klippel-Trénaunay-Weber Syndrome stories
I'm almost 40 years old.  KT affects both legs and feet and the left arm and hand. It has caused compensatory scoliosis and I have a hump on my back.  I'm a woman and I wear a size 16 men's shoe (15 on the right foot). It's painful, I get ulcer...

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Klippel-Trénaunay-Weber Syndrome forum

KLIPPEL-TRÉNAUNAY-WEBER SYNDROME FORUM
Klippel-Trénaunay-Weber Syndrome forum
I am 51 years old and have KTS with port wine stain, left arm, chest, hand. It feels like it is on fire the last few days. I havent had any relief not any physicians around to treat it. anyone else have this issue before
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I was wondering if anyone has ever experienced a blood clot that has a certain place on your body where it comes and goes and if that particular clot showed signs of or became a bruise? And if so whether the blood clot stayed in place for longer than...

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