Klippel Feil Syndrome

**This is so freakin technical, as you can imagine information on KFS is very limited and hard to come by.  I am in the process of making this easier to read so that people can have a better understanding of what it is and what it means, especially in relation to my Thomas**

What is Klippel-Feil Syndrome?

Klippel-Feil Syndrome is a rare disorder characterized by the congenital fusion of any 2 of the 7 cervical (neck) vertebrae. It is caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development. The most common signs of the disorder are short neck, low hairline at the back of the head, and restricted mobility of the upper spine. Associated abnormalities may include scoliosis (curvature of the spine), spina bifida (a birth defect of the spine), anomalies of the kidneys and the ribs, cleft palate, respiratory problems, and heart malformations. The disorder also may be associated with abnormalities of the head and face, skeleton, sex organs, muscles, brain and spinal cord, arms, legs, and fingers.

Is there any treatment?

Treatment for Klippel-Feil Syndrome is symptomatic and may include surgery to relieve cervical or craniocervical instability and constriction of the spinal cord, and to correct scoliosis. Physical therapy may also be useful.

What is the prognosis?

The prognosis for most individuals with Klippel-Feil Syndrome is good if the disorder is treated early and appropriately. Activities that can injure the neck should be avoided.

KFS is considered rare because as far as real statistics go only 1 out of 42,000 have it.

Other related information:

Associated conditions compound the skeletal problem.  Heart defects almost always lead to stunted ages in patients, the average being 35-45 years of age among males and 40-50 among women. This condition is similar to the heart failure seen in gigantism.

Summary: The Klippel-Feil syndrome is an uncommon condition due to congenital fusion of two or more cervical vertebrae. Most afflicted individuals are asymptomatic or have a mild restriction of neck motion. If symptoms referable to the cervical spine occur, it is usually in adult life and is due to degenerative arthritis or instability of the hypermobile articulations adjacent to the area of synostosis. Most respond to conservative treatment measures; a small Percentage require judicious surgical stabilization. Cosmetic surgery is of limited benefit in treatment of the neck deformity. The relatively good prognosis of the cervical lesion is overshadowed by the "hidden" or unrecognized associated anomalies. The high incidence of significant Scoliosis, renal anomalies, deafness, neurologic malformations, Sprengel's deformity, and cardiac anomalies should be of great concern to the physician. Early recognition and treatment of these problems may be of substantial benefit, sparing the patient further deformity or serious illness.

 Prognosis

There have been reports of death following minor trauma because of injuries to the spinal cord in the cervical spine. Most commonly, individuals with Klippel-Feil will develop pain. Some diseases are acquired or occur because of the increased motion of the vertebrae. Degenerative disc disease, or destruction of the cushion like disc between the vertebrae is very common. The most common findings were degenerative disc disease that affected the entire lower cervical spine. Spondylotic osteophytes, or bone spurs in the spine, form as a result of this degeneration. This laying down of new bone may lead to narrowing of the canal through which the spinal cord travels (spinal stenosis).

Surgery may prevent a dangerous and fatal accident because of the instability of the spinal cord. Pain that originates in the neck and travels into the arms (radiculopathy) is common near the sites of the surgical fusion of vertebrae. One study found that 25% of the individuals who had surgery would have had neurological problems within ten years, therefore requiring additional surgery.

  ASSOCIATED CONDITIONS:

Associated abnormalities may include scoliosis (curvature of the spine), spina bifida (a birth defect of the spine), anomalies of the kidneys and the ribs, cleft palate, respiratory problems, and heart malformations. The disorder also may be associated with abnormalities of the head and face, skeleton, sex organs, muscles, brain and spinal cord, arms, legs, and fingers. 

New 2011 report based 100 people with KFS.  

The presence of instability between the fused segments of the spine as well as limited cervical range of motion seems common cause of chronic pain (64%), muscle tension or spasm (62%). (Sprengel's deformity) is also frequently encountered (58%) as well as scoliosis (57%) Deafness (49%), neck bent to one side (46%), sleep disturbances (44%), severe and abnormal repetitive fatigue (41%) as well as paresthesia of the arms or hands (39% ) seem to affect a relatively large percentage of the sample being studied.

Various other symptoms, although less frequent in this population studied, were identified several times by different authors as sometimes present along with Klippel-Feil syndrome. In particular, facial asymmetry (37%), a limited opening of the jaw (36%), vision problems (35% including 4% Duane syndrome), gastrointestinal problems (35%), webbed neck (33 %), hypoplasia or malformation of the kidneys (32%), hemivertebra (28%), thoracic cervical fusion (24%), cervical ribs (22%), the absence or fusion of ribs (21%), mirror movements (20%), ptosis of the eye (16%), spina bifida (15%), sphincter disturbances (14%), abnormal fingers (12%), urethra or ureter stenosis or hypolasia (10%), cleft palate (9%), abnormalities of the reproductive system (8%) and the Arnold-Chiari malformation (8%).

This research documents the higher presence of certain symptoms in relation to previous research. In particular, the facial asymmetry, described in the past as present in 20% of people diagnosed with Klippel-Feil, affects 37% of our study population. Sprengel's deformity affects 58% of our study population compared to 35% in previous studies. Heart and vascular problems affect 22% of our population vs 10% in the previous data. Genitourinary abnormalities and kidney damage, including malformations of the urethra or the ureter, are comparable with previous data (50% vs. 40-65%). Deafness is also comparable (49% vs. 30-50%), as well as mirror movements (20% vs 20%).

Klippel-Feil.org

Rare Diseases

National Institute of Health

Emedicine