How do you diagnose Marfan's?

Answer:
  • A tall and thin body frame, long and slender fingers, and long arms and legs.
  • A curved spine (called scoliosis).
  • Chest-wall deformities, such as a breast bone (sternum) that is caved in (indented) or sticking out (protruding). If the breast bone is indented, it may also be very narrow.
  • Eye or vision problems, such as nearsightedness (only being able to see objects close up) or a detached retina that can lead to sudden loss of eyesight. A detached retina can be repaired by an eye surgeon.
  • Disproportionate growth, meaning people with Marfan syndrome are usually very tall. This may be especially noticeable in children, because they may be much taller than other children their own age.
  • Flat feet.
  • Loose joints (called joint laxity) or being double jointed.
  • Shortened muscles, tendons, and ligaments

The diagnosis of Marfan's is mostly a clinical one. There is no specific laboratory test for it that are used. The doctor look for the things listed above and reviews the patient and family history.

First answer by Hendrickson57. Last edit by Mathdoc. Contributor trust: 424 [recommend contributor recommended]. Question popularity: 1 [recommend question].