Note: This is for educational purposes. Final diagnosis must be made by a physician, typically a geneticist or cardiologist.
The breastbone protrudes outward (pigeon chest). marfan syndrome diagnostic criteria checklist
Presence of at least 3 of the following: long face (dolichocephaly), down-slanting eyes, recessed lower jaw (retrognathia), or flat cheekbones. Note: This is for educational purposes
This is for informational purposes only. For medical advice or diagnosis, consult a professional. AI responses may include mistakes. Learn more recessed lower jaw (retrognathia)
Doctors use echocardiograms or CT scans to measure the diameter of the aorta.
: Is there a known pathogenic mutation in the FBN1 gene?
Stretch marks not associated with pregnancy or significant weight gain/loss. Myopia (1 point): Nearsightedness greater than 3 diopters.
