The signs and symptoms of Marfan syndrome vary greatly, even among members of the same family. Some people experience only mild effects, but others develop life-threatening complications. In most cases, the disease tends to worsen with age.
Marfan syndrome features may include:
1. Tall and slender build
Disproportionately long arms, legs and fingers.
2. A breastbone that protrudes outward or dips inward.
3. A high, arched palate and crowded teeth.
4. Heart murmurs.
5. Extreme nearsightedness.
6. An abnormally curved spine
7. Flat feet
OTHER SIGNS ARE HARDER TO DETECT!!
Harder-to-detect signs of Marfan syndrome include: heart problems, especially those related to the aorta, the large blood vessel that carries blood away from the heart to the rest of the body. Other signs may include sudden lung collapse and eye problems, including severe nearsightedness, dislocated lens, detached retina, early glaucoma, and early cataracts. Special tests are often needed to detect these features.
SKELETON
Someone with Marfan syndrome may have several distinct physical characteristics. They may be:
tall and slim, with long, thin arms and legs
have loose and very flexible joints.
If your child is particularly slim or tall for their age, it doesn't necessarily mean they have Marfan syndrome. It's a rare syndrome, and your child will usually have a number of other symptoms if they have it.
Other physical characteristics of Marfan syndrome can include:
a small lower jaw
a high, arched palate (roof of the mouth)
deep-set eyes
flat feet
a breastbone (sternum) that either protrudes outwards or indents inwards
crowded teeth.
Scoliosis
Marfan syndrome can cause the spine to become abnormally curved to the sides. This is known as scoliosis.
Curvature of the spine can cause long-term backache. In severe cases, it can also make breathing difficult as the spine may press against the heart and lungs.
Spondylolisthesis
Spondylolisthesis is where one of the bones in your spine (a vertebra) slips forward over another vertebra.
This usually occurs in the lower spine, and can cause back pain and stiffness. Anyone can develop spondylolisthesis, but it more commonly affects people with Marfan syndrome.
Dural ectasia
The dura is the membrane that lines your brain and spinal cord. Dural ectasia is a condition where the dura becomes weakened and expands outwards.
People with Marfan syndrome are at particular risk of developing dural ectasia. As the membrane expands, it can press on the vertebrae in your lower back, which can cause:
1.backache.
2.headache.
3.numbness or pain in your legs.