Discussions By Condition: Congenital conditions

New Member with Hereditary KLIPPEL-FEIL SYNDROME (KFS)

Posted In: Congenital conditions 26 Replies
  • Posted By: KFS Gal
  • May 17, 2007
  • 05:46 PM

Hello,

I am new to this forum and would just like to introduce myself. But 1st, I would like to share a link to an online support group for people with Klippel-Feil Syndrome (KFS Circle of Friends). This is a great group of people that are willing to share their experiences, and help with any questions one may have pertaining to KFS. It's wonderful to be able to talk to other people who have the same, very rare, condition you may be dealing with:

http://health.groups.yahoo.com/group/O-Circle-O/


I am a 44 year old female with a congenital condition known as Klippel-Feil Syndrome (KFS). My particular case of KFS is hereditary. My father had KFS but he was never diagnosed prior to his death in 2001. He had cervical vertebral fusion only at one level, C-3/C-4. He had several other anomalies that are associated with KFS but apparently none of his doctors were familiar with KFS!

I diagnosed myself with KFS in August 2005 (later confirmed by doctors). I have always had pain in the area of my neck and shoulders. I also had pain in my feet and legs. My pediatrician said there was nothing wrong with me, just growing pains. I grew up thinking that the pains I dealt with everyday were just normal. They did become normal for me.

In 1998, routine xrays (for arthritis related pain) showed that I had cervical vertebral fusion at 2 levels, C2/C3 & C4/C5. My rheumatologist told me that it was just the way I was born, no big deal. She also told me that my right scapula was deteriorating due to my arthritis.

In 2005, I had more xrays due to severe neck pain. These xrays revealed that I had bilateral cervical ribs, and severe cervical arthritis due to hypermobility at the unfused joint interspaces above and below the levels of congenital fusion. The doctor told me that Cervical Ribs were pretty rare.

When I got back home I did a google search on CERVICAL RIBS and FUSED CERVICAL VERTEBRAE. This search returned many articles related to Klippel-Feil Syndrome. After reading many of the symptoms of KFS I realized that I had this congenital condition. I then called my doctor to discuss it with him. He had never heard of it before and suggested that I contact a specialist at Emory University or somewhere that would know more about it. That was almost 2 years ago. I have been to several doctors since then but have found none that are familiar with KFS and it's anomalies!

I have done tons & tons of research on my own. I feel that I am quite the EXPERT on KFS (hahaha). I have printed out what seems like millions of articles so that I can read them while sitting in a comfortable position. It is hard for me to sit in a regular chair anylonger, especially at a computer. I usually have to sit in a recliner with pillows supporting my arms, etc. It is very difficult to hold my head up without support.

I have never had even one doctor give me any information regarding KFS. I have always had to give the doctors information on it. I print a copy of the articles explaining about KFS and give to each doctor that I see. This is usually their first encounter with KFS.

I also have Thoracic Outlet Syndrome (Arterial compression in the Brachial Plexus area)

I also believe that I have Sprengel's Shoulder. When my rheumatologist mentioned (in 1998) that my right scapula was deteriorating due to arthritis, I believe what she actually saw was an underdeveloped scapula which seems to be common with KFS. Much of my worst pain has always been in the area of my right scapula.

I know it seems crazy, but just yesterday, I really noticed how much higher my right shoulder is than my left. I put on a pair on dangling earrings and was looking in the mirror. The right earring was touching my shoulder; the left (by far!) was not.

Upon closer inspection I could see that there is about 1 1/2 inches of space between my right ear and shoulder. There is about 4 or more inches of space between my left ear and shoulder! WHY HAVEN'T I NOTICED THIS BEFORE?? :confused:

I am now comparing everything on the right side of my body to the left.
There ARE differences........:eek:

I have always known that my left foot is 1 complete size bigger than my right.

One of my MRI reports shows that the right side of my C7 transverse process is higher than the left side.

My first thoracic rib is abnormal on both sides, especially the right. I have a very short C-Loop, as my doctor calls it.

It also seems that my body wants to grow extra bone all over the place, like in my knees (kinda pointed looking things??). Also, my dad always told me I had a thick skull. Little did he know.......My skull is abnormally THICK! It looks like it is about an inch or so thick. There is actually evidence of a brain in there, but it looks pretty crowded, especially the cerebellum. My posterior fossa (lower back part of the skull) is kind of small & mis-shaped. It looks like there would be no room for Cerebral Spinal Fluid to circulate. (more things for me to inquire about)

Anyway, I hope some of this information may be of help to someone. These forums are a wonderful way to to give and receive helpful information...........you walk away knowing you are not the only one!

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