Could I have Lujan-Fryns syndrome

  • Context: Medical 
  • Thread starter Thread starter moonman239
  • Start date Start date
Click For Summary
SUMMARY

The discussion centers on the potential diagnosis of Lujan-Fryns syndrome in a user who has undergone testing for Marfan syndrome and homocysteinuria, both of which returned negative results. The user has an aortic aneurysm and was initially diagnosed with Marfan syndrome. Participants emphasize the importance of consulting healthcare professionals for accurate diagnosis and discourage providing medical advice in the forum context.

PREREQUISITES
  • Understanding of genetic syndromes, specifically Marfan syndrome and Lujan-Fryns syndrome.
  • Knowledge of genetic testing procedures and their implications.
  • Familiarity with aortic aneurysms and related cardiovascular conditions.
  • Awareness of ethical considerations in online medical discussions.
NEXT STEPS
  • Research the genetic markers associated with Lujan-Fryns syndrome.
  • Learn about the diagnostic criteria for Marfan syndrome and its differential diagnoses.
  • Explore the implications of aortic aneurysms in genetic syndromes.
  • Study the ethical guidelines for online medical advice and patient confidentiality.
USEFUL FOR

This discussion is beneficial for individuals experiencing symptoms related to genetic syndromes, genetic counselors, and healthcare professionals seeking to understand the nuances of patient communication in online forums.

moonman239
Messages
276
Reaction score
0
I'm going to see a geneticist this year. The last one ordered blood tests for Marfan syndrome and homocysteinuria, both of which turned out negative.

As far as I know, none of my blood relatives have anything similar to Marfan syndrome.

Edit: I should add that I have an aneurysm in the aorta and my initial diagnosis - prior to the blood tests - was Marfan syndrome.
 
Biology news on Phys.org
Considering that no one here knows your medical record that would make any insight pretty hard. Further, it would be ethically wrong to advise on medical issues over the internet and its against forum rules!

This is something you need to discuss with your doctors.
 

Similar threads

Medical How Do Surgeons Perform Lung Transplants on Patients with Reversed Organs?
  • · Replies 3 ·
Replies
3
Views
3K
Medical Is a genetic test necessary for Lowe syndrome?
  • · Replies 7 ·
Replies
7
Views
6K
COVID Covid Long Haulers: Statistics Show Potential for Serious Health Issue
  • · Replies 47 ·
2
Replies
47
Views
10K
Mice Have Longer Lives If Taking Bodybuilding Supplement
  • · Replies 9 ·
Replies
9
Views
3K
COVID Understanding COVID Quarantine Guidance
  • · Replies 2 ·
Replies
2
Views
3K
Is It Safe to Inject a COVID Booster Before the Alcohol Prep Pad Dries?
  • · Replies 18 ·
Replies
18
Views
3K
Medical Could an Infection Trigger Visual Snow Syndrome?
  • · Replies 3 ·
Replies
3
Views
3K
Medical Acetylcysteine and high doses of Acetaminophen/Paracetamol
  • · Replies 7 ·
Replies
7
Views
2K
Medical Collapsed after just 40ml bloodloss
  • · Replies 14 ·
Replies
14
Views
8K
Medical Electrical stimulation of the Vagus nerve may relieve treatment-resistant depression
  • · Replies 1 ·
Replies
1
Views
3K