Klippel Feil Syndrome | Spine Specialist

An Overview of Klippel Feil Syndrome

Klippel Feil Syndrome stems from the time of human development in the uterus. In embryological terms, humans start to form the spine through structures called somites. These somites develop soon after inception and start forming the vertebra by separating at about 3-8 weeks of development. Klippel Feil Syndrome is a failure of segmentation of one or more of these somites in the neck. In other words, the segments don’t separate. This causes, in effect a “fusion” of the two cervical vertebral segments.

The reason this developmental error is called Klippel Feil Syndrome is due to the observation of Maurice Klippel and Andre Feil. These physicians independently described this condition in 1912.

Klippel Feil Syndrome is normally found as an incidental finding. This means that this congenital fusion normally causes no symptoms by itself. There might be preexisting decreased range of motion of the neck, but most people with this condition would not notice this decreased motion.

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(Please keep reading below for more information on this condition.)

The main problem with Klippel Feil Syndrome is that normal degenerative changes occur around the fusion and eventually, symptoms occur from these degenerative changes. These are the typical complaints that most individuals have who do not have Klippel Feil Syndrome suffer from; neck pain, stiffness, shoulder and arm pain and nerve compression symptoms.

There is a small subset of patients who have other congenital anomalies associated with Klippel Feil Syndrome. These include renal abnormalities (kidney), Sprengel’s deformity (the scapula or shoulder blade sits high on the upper back), and other more rare conditions. In younger individuals, an ultrasound of the kidneys may be indicated.

For additional resources on Klippel Feil Syndrome, please contact the office ofDr. Donald Corenman, spine specialist and neck doctor.

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(Click to Enlarge Image) The white arrow points to the congenital fusion segment. Note the significant degenerative segments above and below this fusion segment. These degenerative segments have occurred secondary to genetic and occupational factors unrelated to the Klippel Feil segment.

(Click to Enlarge Image) The black arrow points to the congenital fusion on this X-ray.

Donald Corenman, MD, DC

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81 reviews

Eric S

Sep 26, 2021

by Eric S on Donald Corenman, MD, DC

Successful pars repair at 46 years old

Back in November of 2018 (at 46 years old) I came from Vancouver BC to have a pars repair done with Dr. Donald Corenman at the Steadman Clinic in Vail Colorado. I'm finally posting this review nearly three years later in late 2021. The reason I waited so long was I wanted to know the final result before I posted my review. Unfortunately in that time Dr. Corenman has retired. Nevertheless, I want to post this review of Dr. Corenman and his staff at the Steadman Clinic in their excellent treatment of my L5 pars interarticularis.

I fractured my pars at age 42 back in 2014 when rolling on the gym floor, and was denied treatment by the Canadian healthcare system, probably due to my age. First my GP told me there was no surgical option for a pars defect, which was quite incorrect! I tried to live with it, but the symptoms worsened (periodic random spine slippage and weeks of resultant pain after just bending over to tie my shoe, so I eventually learned to mostly squat and hardly bend). When I finally consulted with Canadian spine surgeons, I was told they believed my pars defect had been congenital (since birth). This was absurd, considering I had done extreme martial arts (including jiu jitsu) for years prior, as well as 5 years of reinforcing steel full time in my 20s, probably the hardest job on the back you can find. No pars defect like mine would possibly have allowed this--ergo it was impossible that I had had the defect since birth. I did however have an asymptomatic congenital spina bifida occulta that made me more susceptible to a pars fracture. In 2014 in one instant, I went from having the strongest back people I knew said they'd ever seen, to being unable to safely bend over and tie my shoe without a non-negligible risk of my spine slipping randomly (which would lead to weeks of pain after each occurrence). This was due to the unilateral L5 pars defect, otherwise known as spondylolysis. It was when lying in pain on the floor 4 years later after maybe the 6th spine slippage event post injury, that I had had enough, and resolved to have surgery. If Canada's "universal health care" said no, I would make lemonade from lemons, and find the very best surgeon in the world at pars repairs. That was Dr. Donald Corenman. Dr. Corenman back in 2018 ran a website https://neckandback.com/ that dedicated many pages to the science of every aspect of pars repairs, from eligibility (good discs on MRI), to best surgical techniques (minimal open compared to minimally invasive), best imaging to use (i.e., O-Arm with Stealth imaging vs. older fluoroscopy), the ideal amount of BMP to use and why not use too much or too little, and much more, all to do with pars repairs, pages upon pages of his site just on the pars, with scientific references and his own extensive expert opinion. As a health research statistician, I was very impressed with this. It was in stark contrast to the websites of other spine surgeons which barely gave the pars a word or two, focusing almost exclusively on fusions. I had found the best surgeon in the world for pars repairs, and so after Dr. Corenman personally screened my MRI to ensure my discs were healthy, I booked the surgery.

Being 46 years old at the time of surgery in 2018, with a 4-year-old pars fracture from 2014 combined with a congenital SBO meant my pars fragment was somewhat atrophied, but it was "very solid", said Dr. Corenman in the operative report. Nevertheless, it was challenging with two things to fix, the pars and SBO, and OR time was around 4 hours. Recovery over the following months was guided by a very clear "Spine binder" from the Steadman Clinic with strict rules of "no BLT" (no bending, lifting or twisting), and illustrated physiotherapy guidelines. They even warned patients to avoid fish oil supplements, which could excessively dampen inflammation and hence slow bone healing. They answered many questions I had during months of recovery, with responses coming from the very supportive Lori Fugate (then director of Dr. Corenman's practice), and Ehrich Bean (then physician's assistant at the practice), as well as a couple calls with Dr. Corenman himself after two of the CT scans. Ehrich Bean offered great advice for taking the spine binder conservatively due to the nature of pars repairs vs. fusions. The final post-op CT scan I had was a couple weeks ago at 34 months post-op, and Dr. Corenman had retired, but I got a very positive and informative call from Eric Strauch (current PA at the Steadman Clinic under Dr. Corenman's replacement there, and who had also worked with Dr. Corenman previously). The staff at the Steadman Clinic were extremely supportive all the way through the process. I should mention, the local Canadian spine surgeon did offer me very good post-operative support including antibiotics as needed to deal with a mild surface incision-site infection early on, booking numerous x-rays when I felt something was amiss, as well as booking all four of my post-op CT scans. I am very grateful for that support also.

My final result shows plenty of solid bone across the pars and a healed SBO, with my vertebral body now a solid bone ring instead of being broken at two places as it was pre-op. Does my spine hold up in the real world? You bet! I have recently dug and moved several yards of dirt and sand and gravel by myself (shovel and wheelbarrow!) to fix our water main, pulled roots from the yard, moved several "portable" (these are HUGE) air conditioners up several flights of stairs my myself, and lifted weights. I now run 2 miles (3.2 KM) several times weekly with a hard 100 meter dash in the middle. I bend deeply before each run I go on, with no spine slippage. My spine feels amazing. I can bend over to do exercise, or real word tasks, with no risk of spine slippage.

My sincere thanks to God, Dr. Donald Corenman, Lori Fugate, Ehrich Bean, Eric Strauch, and the Steadman Clinic, as well as the Canadian spine surgeon who offered me excellent post-operative care back in Canada. You have all given me a new lease on life.

Sincerely,
Eric S

Robert S

May 11, 2021

by Robert S on Donald Corenman, MD, DC

Back Fusion Surgery

I had my entire lumbar spine fused in November of 2018. I had scoliosis , with pinched nerves that were so painful I could hardly walk - and standing for more than a few minutes was impossible. Even sitting was painful.
The fusion surgery produced immediate relief! And the recovery was much easier than I expected.
To this day I can do all the activities I love from hiking, to standing in a stream fly fishing to riding my bike long distances - or just walking down the street with my wife.
Kudos to Dr. Corenman and his staff, (including the two Erics) for taking such good care of me!

Leslie R

Jul 9, 2020

by Leslie R on Donald Corenman, MD, DC

TLIF

I had my TLIF surgery on 6/24/2020 by Dr. Corenman, I can not say enough good things about the Dr or his staff. I was always treated with respect and explained everything throughly, that made it easy for everyone to understand. I highly recommend Dr. Corenman and the Steadman Clinic.

Klippel Feil Syndrome (Congenital Synostosis of Cervical Vertebra)

An Overview of Klippel Feil Syndrome

Are you suffering from symptoms of Klippel Feil Syndrome?

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About the Author: Donald Corenman, MD, DC

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