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Unknown genetic disorder
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Unknown genetic disorder

When I was 3 years old I developed Rhabodmyosarcoma which was successfuly treated and have been disease free since (20 years old now). When I was around 7 my peditrician noticed cafe au lait spots on me and sent me to a genetics speclaist for Neurofibromatosis testing. They concluded I had NF because of the Cafe Au Lait spots and a postive Crowe's Sign. Along with a large head and short stature.

These are the only symptoms of NF I have. But I also have a giant cell like tumor in my distal femur and proximal tibia. I also have the same tumors in my lower and upper jaw and have the oral symptoms of cherubism. (enlarged gumline, missing teeth, large jaw)

Every doctor I have seen hasn't given me an accurate diagnosis other then a strange manifestation of NF. Or they say they are puzzled.

I have since done my own research and has discovered my symptoms sound like a form of fibrous dysplasia.

I have brought this up to one doctor but he was quick to dismiss it.(even though my peditrican doesn't think I have NF)

Also now all my symptoms relating to my bones have gotten better and my oral swelling is barely noticable. (following the course of fibrous dysplasia)

To make things more odd I do not have any neurofibromas which I should have by now which makes me doubt I have NF even more.

But my NF sings (cafe au lait spots and freckling are on both sides) while the bone tumors to the best of my knowledge are only on my left side.

What do you think I have.

I apologize for such a technical question but I would like an answer. Thanks for taking my question.
1 Comment
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Avatar_m_tn
Just to add I have been seen by neurologist, gentics experts, cardiologists, orthopedic surgeons, oral suregons, ENTs, opthmologist etc. And none have found any interal signs of NF, I also have above normal intelligence which seem to exclude NF. I am also aware of McCune Albright but my cafe au lait spots are everywhere and have clear borders or "coast of california". I have also read that freckling in the groin was incorrectly called Crowe's sign and is not a symptoms of NF unless it is in the arm pit.
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