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What Are The Symptoms Of Marfan Syndrome?

Posted on Mon, 28 Jul 2014

Question: My 13 year old son has the following signs and symptoms, extremly large hands and fingers,thumb and pinky overlap around wrist, scolosis, recessed sternum, horizontal stertch marks in middle of back, fatigue, headaches. He has also complained of rapid heart beat, chest pain, abdominal pain (which i took him to the ER and peditrican for and said he was fine) my question is what is the chances that he has Warfan Syndrom?

Answered by Dr. Arun (2 hours later)

Brief Answer:
could br marfan or acromegaly

Detailed Answer:
Thanks for writing to health care magic.

Large hands or long hands ?

If arms and hands are long , then the other features you described could fit with marfan syndrome, but this needs confirmation by genetics. Usually they also have heart lesions like aortic aneurysm or valve prolapse, which needs to be screened for.

If hands are broad and large then it could be acromegaly which is endocrine issue due to high pituitary growth hormone.
Do send some photos too to understand better.

Regards
Dr Arun

Above answer was peer-reviewed by : Dr. Prasad

Follow up: Dr. Arun (19 hours later)

Thank you for your resopne here are photos of him the one is his pinky and thumb, stretch marks on back, and the concave sternum. He has long hands and was born with them along with large feet What is acromegaly? .

Answered by Dr. Arun (2 hours later)

Brief Answer:
looks more like marfan

Detailed Answer:
Hi
Acromegaly is due to increased growth hormone. The photos do not suggest it.
Looks like marfan syndrome .
Evaluate further to confirm.

Above answer was peer-reviewed by : Dr. Prasad

Follow up: Dr. Arun (50 minutes later)

I came across Marfan when i googled stange stretch marks. Is there any risks to this disorder that i should have him evaluated right away? The reason I ask is his is planned to travel for the rest of the month? Would his peditrican be able to diagnose or does he need to see a specalist?

Answered by Dr. Arun (1 hour later)

Brief Answer:
Yes there are risks

Detailed Answer:
Yes there are cardiac risks associated with mafrans as I had explained in my firstanswer.
Your pediatrician should be able to evaluate and refer you to appropriate genetic expert.
Evaluate him soon , regards.

Note: For further queries related to your child health, Talk to a Pediatrician. Click here to Book a Consultation.

Above answer was peer-reviewed by : Dr. Prasad