Have you ever heard of Klippel-Feil syndrome? Chances are, the answer is 'no'. This elusive condition remains relatively unknown due to its rarity and the lack of cases available for doctors and researchers to study. However, Klippel-Feil syndrome, or KFS, is a fascinating and complex disease that deserves our attention. In this article, we will dive deep into the world of Klippel-Feil syndrome, exploring its causes, symptoms, available treatment options, and the profound impact it has on the lives of those affected.
Imagine a skeletal puzzle, where two or more vertebrae in the neck become fused or abnormally joined together from birth. This is precisely what happens in KFS, leading to distinct physical characteristics such as a short neck, a low hairline at the back of the head, and limited mobility in the face, neck, and upper body. Interestingly, you may be surprised to learn that one well-known case of Klippel-Feil syndrome is none other than Ed "Big Ed" Brown, recognised from the popular reality TV show '90 Day Fiancé'.1.
This article aims to provide an in-depth overview of Klippel-Feil syndrome, including its causes, symptoms, available treatment options, and impact on individuals' lives.
Klippel-Feil syndrome (KFS) is a rare congenital skeletal disorder characterised by the fusion or abnormal joining of two or more vertebrae in the neck. It was first identified by French physicians Maurice Klippel and André Feil in 1912. The condition is caused by genetic mutations in the GDF6 or GDF3 genes, which are crucial for proper spine and bone development.
Individuals with KFS exhibit a classic triad of symptoms, including a short neck, a low posterior hairline, and limited facial, neck, and upper body movement. These physical characteristics result from the fusion of vertebrae during fetal development. The exact cause of the genetic mutations leading to KFS remains unknown, and the condition often occurs sporadically without a family history.
KFS is a progressive condition that varies in severity and progression among affected individuals. Diagnosis involves physical examinations and neurological evaluations, with imaging tests sometimes used for confirmation.
Management of KFS focuses on addressing specific symptoms and functional limitations. Treatment may include non-invasive interventions such as cervical collars, braces, or traction, as well as physical therapy to improve mobility and strength. Medications can help manage pain and inflammation, while surgery is reserved for severe cases. While KFS presents challenges, individuals with the condition can lead fulfilling lives with appropriate management and support. Regular medical monitoring is crucial, and personalised care plans can optimise their quality of life.
Causes of klippel feil syndrome
Klippel-Feil syndrome arises during the prenatal stage, occurring in utero while the baby is still developing in the womb. The underlying cause of KFS lies in genetic mutations affecting the GDF6 or GDF3 genes, responsible for the development of the spine and bones in the fetus. However, the precise triggers for these mutations remain unknown, adding to the complexity of understanding the condition.
An intriguing aspect of Klippel-Feil syndrome is that most cases are sporadic, meaning that individuals affected by KFS do not have a family history of the condition or similar genetic mutations. This suggests that the mutations in the GDF6 or GDF3 genes responsible for KFS can occur spontaneously without being inherited from parents. However, it is important to note that although most cases are sporadic, there are instances where KFS can be inherited, implying a potential genetic component in certain cases.
Moreover, Klippel-Feil syndrome can be associated with other congenital disorders. In such cases, KFS may present as a secondary effect of these underlying conditions, which can also cause mutations in the GDF6 or GDF3 genes. These conditions include:
- Fetal alcohol syndrome
- Goldenhar syndrome
- Sprengel deformity
- Duane syndrome
- Renal agenesis
- Wildervanck syndrome
Signs and symptoms of klippel feil syndrome
The symptoms of Klippel-Feil syndrome (KFS) can vary among individuals, and the condition typically worsens over time as it progresses. This progression often leads to increased variability and severity of symptoms as individuals age. However, it is important to note that some individuals with KFS may not experience any symptoms at all, highlighting the diverse nature of the condition.
The symptoms include:
- Limited mobility in the neck and upper back area. This is due to the fusion of the vertebrae
- Low hairline at the posterior of the head
- Visually shorter neck (However, it does function normally)
- Prominent asymmetry between two sides of the head, i.e. shape or size
- Instability of the upper spine. Therefore, it is recommended for individuals with KFS to avoid physical contact sports or be extra careful when operating a vehicle
- Scoliosis (40% of all KFS)
- Deafness (30% of all KFS)
- Neuropathic pain in either arms or legs (sharp or tingly pain)
- Muscle pain in either neck and/or back (aching pain)
- Spinal stenosis
- Develop kidney disease (30% of all KFS)
Other rare symptoms includes:
- Cleft palate
- Reproductive organs abnormalities
- Ribs, arms and legs deformities
- Weakened ligaments in the upper spine-skull junction
Management and treatment for klippel feil syndrome
Since the symptoms of KFS are varied, the treatment reflects that as well. Most treatment of KFS includes a combination of medications and physical therapy. It is also important to note that even though surgery is an option for KFS treatment, it is usually the last line of treatment in case other treatments do not work. It is actually rare for KFS patients to require surgery.
This surgery is typically to stabilise the cervical spine (Upper spine, neck), to correct spinal deformity or to alleviate the pressure off specific nerves or the spinal cord.
Most patients can function normally with non-invasive treatment such as:
- Using cervical (Neck) collars, brace and traction.
- Taking pain medications and anti-inflammations.
If the symptoms are severe and significantly disrupt the individual's daily life or other body functions, they may require surgery. These disruptions include:
- Developed abnormalities within the nervous system e.g. brain, spinal cord and nerves
- Deformations and instability of the spine
- Developed muscle weaknesses in relation to disruptions in the spinal nerves.
Due to the great risk of the surgery, regular health checks i.e. heart, lungs, reproduction system, kidneys, are needed to determine whether the surgery’s benefits are worth the risks.
Diagnosing Klippel-Feil syndrome typically involves a combination of physical examinations, neurological evaluations, and, in some cases, imaging studies. The timing of diagnosis can vary depending on the severity of the disorder, with some cases remaining undetected until later in life.
During physical examinations, healthcare professionals carefully observe the neck, face, and hairline for any characteristic features associated with KFS. They also look for signs of potential spinal nerve damage and assess reflexes related to the spinal cord. Gait observation, examining the individual's walking pattern, can provide additional insights into their physical condition. Additionally, listening to the chest and abdomen can help identify any associated abnormalities.
In some instances, healthcare providers may recommend spine imaging to further confirm the diagnosis and evaluate the extent of spinal abnormalities. Common imaging modalities used for this purpose include X-rays, which provide a two-dimensional view of the spine; computed tomography (CT) scans, which offer detailed cross-sectional images; and magnetic resonance imaging (MRI) scans, which provide highly detailed images of the spinal structures.
These imaging techniques help visualise the fused or abnormally joined vertebrae, assess the alignment of the spine, and identify any associated complications, such as spinal stenosis or other structural abnormalities.
While physical examinations and neurological evaluations are often sufficient to diagnose Klippel-Feil syndrome, spine imaging may be necessary to confirm the diagnosis and provide a more comprehensive understanding of the condition. These diagnostic procedures assist healthcare professionals in developing appropriate management strategies and determining the most suitable treatment approach for individuals with KFS.
How can I prevent klippel feil syndrome
Unfortunately, KFS cannot be prevented as the exact cause is still unknown. However, avoiding alcohol intake during pregnancy is crucial to prevent fetal alcohol syndrome, which can lead to KFS as a symptom.
How common is klippel feil syndrome
KFS is considered a rare condition, with an estimated occurrence of 1 in 40,000 to 42,000 newborns worldwide. Due to its rarity, many healthcare professionals may not be familiar with the condition.
Who is at risk of klippel feil syndrome
What can I expect if I have klippel feil syndrome
It depends on where the bone fusion is and how many of them fused together. If the fusion is higher than C3, which is closer to the base of the skull, the symptoms are more likely to be more severe. Nevertheless, it is difficult to predict what to expect when it comes to KFS, as the symptoms and severity of KFS can vary widely among individuals. The location and extent of bone fusion determine the potential impact on daily life. Some individuals may experience significant disruptions due to bone deformities and immobility, while others may only experience minor symptoms such as occasional headaches.
When should I see a doctor?
KFS is often diagnosed at or near birth through physical observations. However, if symptoms arise later in life or significantly disrupt daily activities, seeking medical attention is recommended to assess and manage the condition effectively.
In conclusion, Klippel-Feil syndrome is a rare congenital condition characterised by the fusion or abnormal joining of vertebrae in the neck. Although the exact cause is still unknown, the condition can have varying impacts on individuals' lives, ranging from mild limitations to more severe physical impairments. With appropriate management and treatment, individuals with Klippel-Feil syndrome can lead fulfilling lives and overcome the challenges associated with the condition.
- Ushe N. 90 day fiancé’s Big Ed opens up about being an inspiration to people with Klippel Feil Syndrome [Internet]. PEOPLE; 2021 [cited 2023 Jul 26]. Available from: https://people.com/health/90-day-fiance-big-ed-inspiration-people-with-klippel-feil-syndrome-21-pound-weight-loss/#:~:text=90%20Day%20Fiancé%20star%20Ed,a%2021%2Dpound%20weight%20loss.
- Menger RP, Rayi A, Notarianni C. Klippel Feil Syndrome - StatPearls - NCBI Bookshelf [Internet]. 2023 [cited 2023 Jul 26]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK493157/
- Frikha R. Klippel-Feil Syndrome: A review of the literature. Clinical Dysmorphology. 2020 Jan;29(1):35–7. doi:10.1097/mcd.0000000000000301
- Tassabehji M, Fang ZM, Hilton EN, McGaughran J, Zhao Z, de Bock CE, et al. Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil Syndrome. Human Mutation. 2008 Apr 18;29(8):1017–27. doi:10.1002/humu.20741