Which are the symptoms of Klippel-Feil Syndrome?

See the worst symptoms of affected by Klippel-Feil Syndrome here

Symptoms of Klippel-Feil Syndrome

Klippel-Feil Syndrome (KFS) is a rare congenital disorder characterized by the fusion or abnormal development of two or more cervical vertebrae in the neck. This condition can lead to a range of symptoms and physical abnormalities, which can vary in severity from person to person.

1. Restricted Range of Motion: One of the most common symptoms of KFS is a limited range of motion in the neck. The fusion or malformation of the cervical vertebrae can restrict the movement of the neck, making it difficult to turn or tilt the head.

2. Short Neck: Individuals with KFS often have a shorter than average neck due to the abnormal fusion of the vertebrae. This can give the appearance of a low hairline and limited neck mobility.

3. Abnormalities of the Spine: KFS can also affect the development of the thoracic and lumbar vertebrae, leading to additional spinal abnormalities. These may include scoliosis (sideways curvature of the spine), kyphosis (forward rounding of the upper back), or lordosis (excessive inward curvature of the lower back).

4. Facial Asymmetry: Some individuals with KFS may exhibit facial asymmetry, which can include differences in the size or shape of the ears, eyes, or jaw. This is thought to be related to the abnormal development of the bones and tissues in the head and neck region.

5. Hearing and Vision Problems: KFS can be associated with hearing and vision impairments. These issues may arise due to abnormalities in the structures of the head and neck, such as the inner ear or optic nerves.

6. Breathing Difficulties: In severe cases of KFS, fusion or malformation of the cervical vertebrae can affect the alignment of the airway, leading to breathing difficulties. This can result in respiratory problems, especially during sleep.

7. Cardiovascular Abnormalities: Some individuals with KFS may have cardiovascular abnormalities, such as defects in the structure or function of the heart. These can range from mild to severe and may require medical intervention.

8. Kidney and Urinary Tract Abnormalities: KFS has been associated with abnormalities in the kidneys and urinary tract. These can include kidney malformations, urinary reflux, or other urinary tract abnormalities.

9. Neurological Symptoms: In rare cases, KFS may be associated with neurological symptoms, such as weakness, numbness, or tingling in the arms or legs. These symptoms can occur if the abnormal vertebrae compress or impinge on the spinal cord or nerves.

10. Other Physical Abnormalities: KFS can sometimes be accompanied by other physical abnormalities, including webbed neck (extra folds of skin), cleft palate, or abnormalities of the ribs or limbs.

It is important to note that the symptoms and severity of KFS can vary widely among individuals. Some people may only experience mild symptoms, while others may have more significant physical and functional impairments. Additionally, not all individuals with KFS will exhibit every symptom mentioned above.

If you suspect that you or someone you know may have Klippel-Feil Syndrome, it is crucial to consult with a healthcare professional for a proper diagnosis and appropriate management of the condition.

Diseasemaps

Posted Mar 25, 2017 by Jackie 300

Klippel-Feil syndrome (KFS) is a rare skeletal disorder primarily characterized by abnormal union or fusion of two or more bones of the spinal column (vertebrae) within the neck (cervical vertebrae). Some affected individuals may also have an abnormally short neck, restricted movement of the head and neck, and a low hairline at the back of the head (posterior hairline). The disorder is present at birth (congenital), but mild cases may go undiagnosed until later during life when symptoms worsen or first become apparent.

In some individuals, KFS can be associated with a variety of additional symptoms and physical abnormalities. These may include abnormal curvature of the spine (scoliosis) and/or vertebral instability, spina bifida occulta, raised scapula (Sprengel's deformity), absent rib(s) and other rib defects including cervical ribs & rib anomolies, other skeletal abnormalities including skeletal malformations of the ear, nose, mouth and larynx including hearing impairment and cleft palate, malformations of the head and facial (craniofacial) area; anomalies of the urinary tract and/or kidney including absent or horse-shoe kidney; or structural abnormalities of the heart (congenital heart defects), mirror movements, webbing of the digits and digital hypoplasia. In addition, in some cases, neurological complications may result due to associated spinal cord injury. KFS can be associated with a wide variety of additional anomalies affecting many different organ systems of the body.

The progression and severity of KFS can vary greatly depending upon the specific associated complications and the Class of KFS. Some cases may be mild; others may cause serious, life-long complications.

Posted Nov 13, 2017 by Tiffany 1100

I have had pain 24/7 since I was 15 years old and hit my growth spurt causing the weakness from my Klippel-Feil at which time I was becoming paralyzed. Which I’m happy to report was successful and I’m not paralyzed. I have good days and bad. Weather really affects me, part of which comes from having had to have 3 surgeries over the years. I also have Hyper Mobility Syndrome, so my joints and spine are dengenrating as well as wearing out faster than a “normal” person.

Posted Apr 27, 2019 by Heidi 1600

Joint and/or missing junctions in the spinal cord. Low hairline, scoriliosis, Heart conditions, problems with other organs, respiratory problems, pain, etc.

Posted Jan 11, 2021 by Line 1600

Translated from portuguese Improve translation

I am a carrier of this syndrome and, in addition to the bony fusion, also I was born with a bony protrusion between the C4 and C5. During 7 years, I did physical therapy 3 times a week, which helped me and a lot, since it decreased the intensity of pain and espació very the interval between a crisis of pain and another. However, I suffer from chronic pain and every day I feel pain, but I learned to develop the same as well.
I hope I have helped in some way to those who are reading.

Posted Nov 24, 2017 by Veronica 100