Patient Comments: Loeys-Dietz Syndrome - Signs and Symptoms


Was your child diagnosed with Loeys-Dietz syndrome? Please describe signs, symptoms, or characteristics. Submit Your Comment

Comment from: Frosty, 35-44 Female (Patient) Published: January 29

Diagnosed with Loeys-Dietz syndrome (LDS) at 42, I had a lifetime of symptoms and physical challenges I never knew why. Had open heart surgery at 22. Then my cardiologist sent me to a genetic doctor two years ago who put it all together: SVT (supraventricular tachycardia), Tarlov cyst surgery, tortuous arteries, dysautonomia, headache, and digestive issues. I had blood test of TGFBR2. I had 2 recurrences of cancer in 1 year. My oncologist (who researched LDS) and genetic doctor agreed LDS may be the fuel behind it.

Comment from: Simona, 25-34 Female (Patient) Published: September 25

I've got diagnosed with Loeys-Dietz syndrome and it took me 25 years and a genetic test that we paid out of our own pocket for (we were looking for Ehler Danlos syndrome). I have scoliosis, hypermobility, translucent skin that bruises easily, allergy issues, digestive problems and most recently my heart has thickened. I got to say it feels really horrible. I am often limited in what I can do and yet I have to fit into the normal life that everyone has, because I'm not disabled either.

Comment from: Native Proud Dad, 0-2 Female (Caregiver) Published: April 23

My daughter has just recently been diagnosed with Loeys-Dietz syndrome. She is 8 months with hyper extension of the hips. Her knees did fold backwards at birth but she has been in braces at 2 months. Her feet were in a club foot position but now looks more normal. Her toes are slightly spread due to the club feet. Her fingers are long and flexible. She does have a concave chest and a high palate. She was not born with a cleft lip. Her mother and I both tested negative. The gene changed in her alone. She is my princess.

Comment from: amberd73, 7-12 Female (Caregiver) Published: March 26

My 7 year old was diagnosed with Loeys-Dietz syndrome recently. She has hyper flexibility (awkwardly flexible/contortionist style), dilated aorta, concave chest, easy bruising, translucent skin, and webbed feet. She’s perfect, though in my eyes and I’m so glad they found this diagnosis while she’s young! Please urge others to push for concrete answers if they aren’t satisfied with what the doctors say! I’m so glad we did! We potentially saved her life by finding this out early!

Comment from: Caz, 0-2 Female (Caregiver) Published: May 11

My granddaughter has been diagnosed with Loeys-Dietz syndrome type 4 after having a genetic test. She is very flexible and can bend her thumb back to touch her wrist. Her legs are very flexible, and she has flat feet and a high roof to her mouth. She is tall for her age and the whites of her eyes are grey. Her fingers are very thin and long. Her eyes are wide apart. Her feet turn inwards. She has poor balance and low blood pressure. She has regular checkups for signs of any aneurysms.


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