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Koolen- DeVries Syndrome
10
Kennedy Gienapp
Koolen De-Vries Syndrome
[KDVS]
Story 2: Nicholas Hallock
Story 1: Aniston Gienapp
See to Biteable video.
Nicholas Hallock was diagnosed with KDVS when he was 18. He started talking at 6, and walking at 3. He struggles a lot with his developmental delay, but it described to have an amazing and cheerful personality.
He loves swimming and dancing, and often attends the East End Disabilities Music Program.
What is KDVS?
KDVS (Koolen- DeVries Syndrome) was discovered in 2006 by doctors David A. Koolen and Bert DeVries. Because of it's very recent discovery, not much information is known about the disorder, which causes issues when trying to diagnose KDVS. This disorder, like many others, affects the chromosomes. This one in particular affects the 17th chromosome in the form of either a microdeletion or a mutation, along with the KANSL 1 gene.
Facts about KDVS
Facts about KDVS:
1: It is predicted that KDVS only appears in 1 in 55,000 people. This could be inaccurate, since people with this disorder are often misdiagnosed.
2: Kids with this disorder are described as having very vibrant and bubbly personalities. They are very social but do get nervous in large crowds. They are also said to be very cooperative.
3: People affected by KDVS often look very similar to each other. They have similar facial features, and tend to have blue eyes.
4: Children with KDVS are called "Kool Kids".
5: Certain symptoms of KDVS don't appear until they are adults or only appear in a small percentage of affected people.
What causes KDVS?
KDVS-
17q.21.31
What causes it?
KDVS is caused by either a micro'deletion or a mutation of chromosome 17, and a deletion of the gene KANSL 1 in chromosome 17. This gene helps control gene activity. KANSL 1 plays a major role in developing and functioning multiple parts in the body. Deletion of KANSL 1 causes developmental delay and deformities such as heart defects and kidney problems.
KDVS is not typically inherited, but can be passed down if somebody with KDVS has children. KDVS mostly occurs randomly, and patients with it are usually the first in their familiy to have it.
What are the chances of having KDVS?
Chances of Getting It
The chances of having a child with KDVS is estimated to be 1 in 55,000. This estimate could be very inaccurate considering that people with KDVS are often misdiagnosed because of similar symptoms of Koolden De-Vries syndrome shares with other disorders.
KDVS does not affect specific ethnic groups, ages, or genders. Anyone can be born with it, but mothers who have children over the recommended age are more likely to give birth to a KDVS child.
Who's More Likely to Have It?
What are the symptoms of KDVS?
What are the symptoms?
Symptoms that vary between individuals and can include:
- low muscle tone
- epilepsy
- developmental/intellectual delays
- skin and hair problems
- Joints that are too flexible.
- brain abnormalities
- Kidney anomalies
- far sightedness
- crossed eyes
- heart defects
This is a spectrum syndrome much like Downs Syndrome, which can lead to a misdiagnosis. Children can vary from mild to severe. The more severe, the more physical defects there are.
People with Koolen- DeVries syndrome all have a very similar look and similar personality traits
Extra Information
Kool Kids have higher rates of melanoma and auto-immune disease. Speech is often delayed until as late as 10 years old. Even with all of the physical and mental challenges, Kool kids are often cheerful and happy. They are cooperative and determined.
Some symptoms only appear in a small group of people with KDVS, such as epilepsy, or occur when they reach an older age.
Because of the recent discovery of KDVS, there is no set life expectancy. There are very few documented people with this disorder in their 30s and 40s, and so far we can only guess that the majority die in their 20s.
How is KDVS treated?
What are the treatments?
People with KDVS undergo very specific treatments for their symptoms. These treatments may include medication for epilepsy, both physical and speech therapy, and medication for other issues they may have. Children require special education so they can keep up with other kids their age.
For communication, individuals will use sign language or special apps that allow them to communicate with people.