MED13L Foundation

Communicating. Connecting. Empowering.

MED13l Foundation

Families supporting the MED13L cause.

What is MED13L

MED13L haploinsufficiency syndrome is caused by changes (pathogenic variants, also called mutations) in the MED13L gene.

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Diagnosis may be suspected due to distinctive facial features, speech delay, and intellectual disability, but must be confirmed by genetic testing. There is no cure or specific treatment for MED13L haploinsufficiency syndrome at this time. Treatment depends on the types and severity of the medical, developmental, and behavioral problems affecting the person with the syndrome and may include heart surgery and therapies such as speech, occupational, and behavioral therapy.

Find a Cure

Our hope is to one day find a cure for those affected with MED13L. As technology and medical advancements are made, our hope may become a reality!

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Research is a component to navigating any syndrome. Any additional information we can add is like finding a lost puzzle piece. Every piece added together makes a complete picture.

Support / Donate

Please consider supporting The MED13L Foundation. Our mission, Communicating, Connecting and Empowering MED13L families around the world will increase MED13L awareness.
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This will better serve the families affected by MED13L and will encourage cooperation with medical partners. Every dollar counts towards supporting the MED13L Foundation. If you would like to donate to the MED13L Foundation, please click the donate button.Thank you so much!

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What is MED13l?

MED13L haploinsufficiency syndrome is a genetic syndrome that causes intellectual disability, speech problems, and behavioral problems. People with the syndrome usually have distinctive facial features, such as eyes that slant upwards, a flat nasal bridge with a bulb-like tip, very small chin (micrognathia), large and low-set ears, and broad forehead. Most children with the syndrome have poor muscle tone (hypotonia) and may take longer to learn to sit and walk independently (delayed motor skills). Some babies with MED13L haploinsufficiency syndrome are born with heart defects, which may be mild or severe. Other features may include short stature, cleft palate, problems with coordination (ataxia), and recurrent seizures (epilepsy).

How You Can Contribute

Fundraising

Fundraising helps provide financial support to the MED13L Foundation initiatives. More importantly, it is a way to raise public awareness about MED13L and the issues/needs of those affected by the syndrome.

Raise Awareness

Help raise awareness by telling your family, friends and doctors about the MED13L Foundation, share our website on social media and help keep MED13L a discussed topic

Tell Us About Your Loved One

Share your MED13L Journey by submitting family pictures that can be posted on the website so that you can make connections with other families through our foundation.

Our Goal is to FIND A CURE

There is no cure or specific treatment for MED13L haploinsufficiency syndrome. Treatment depends on the types and severity of the medical, developmental, and behavioral problems affecting the person with the syndrome and may include heart surgery and therapies such as speech, occupational, and behavioral therapy. [source]

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [source]

Support Around the World for

MED13L Syndrome

OUR MED13L community is popping up all over the globe! Help support each other no matter the distance between us. Connect with us using our website and also on social media. If you are diagnosed with MED13L or a MED13L caregiver, you can add yourself on the map by providing the state the family member with MED13L resides. Having this information may help families connect with those living nearby. *Larger version of the map coming soon.

Outside of the USA (larger map coming soon):

Amanda, UK
Ayeshia, UK
James, Australia
Bryan, UK
Cara, Canada
Susana, Portugal
Faten, Abu Dhabi/UAE
Baitar, Romania
Giurescu, Romania
Paul, España
Pietro, Italia
Adriana Maria - Camaragibe, Pernambuco
Panić Petar - 51000 Rijeka, Croatia
Felix | Arroyomolinos, Madrid
Andreas | Tallinn, Estonia
Camila | Buenos Aires, Argentina
Milena | Katowice, Poland
Lenka Cigankova | Bohusov, Czech republic
Liam | Brighton, UK
Myla-Rose | Plymouth, UK
Ethan | London, Ontario, Canada
Toov | Jerusalem, Israel
Adi liber | Tel aviv, Israel
Luca | Bologna, Italia
Benjamin | Northumberland, UK
Charlie | Northumberland, UK

Connect. Support. Research.

We hope that our family’s experiences on this unexpected journey will help other families on their journey. We would love other MED13L families to join with us and make this “Our MED13L Journey.” Be sure to follow the MED13L social media and subscribe to MED13L to receive all of our updates.