Klippel Feil Syndrome

What is Klippel Feil Syndrome?

Klippel-Feil syndrome is a complex, inborn condition that results from an unusual joining of two or more bones in the neck region while a baby is still in the mother’s womb. This issue occurs because of a developmental misstep during the early stages of the unborn baby, causing the neck to become short due to the abnormal joining of neck bones. The condition, which was first introduced by Maurice Klippel and Andre Feil in 1912, is typically identified by three main signs: a short neck, a lower-than-usual hairline at the back, and limited ability to move the neck.

Ever since Klippel-Feil syndrome was first explained, it has been linked to various irregularities in the spine and elsewhere in the body. They might be responsible for chronic headaches, restricted neck movement, and neck muscle pain. Klippel-Feil syndrome can also lead to a narrowing of the spaces within the spine, neurological deficiencies, distortions in the cervical spine, and instability. Additionally, the condition may come with various other congenital, or birth, abnormalities.

What Causes Klippel Feil Syndrome?

The exact cause of Klippel-Feil syndrome, a condition that affects the spine, is not completely understood. Some scientific studies suggest that it might be related to problems with blood flow, general harm to the unborn baby, complications with the initial formation of the spine, or hereditary factors.

In some cases, Klippel-Feil syndrome may occur alongside conditions such as fetal alcohol syndrome (a condition caused by mothers drinking alcohol during pregnancy), Goldenhar syndrome (a condition that results in abnormalities in the face and spine), and Sprengel deformity (a congenital defect where the shoulder blade is too high).

Certain inherited gene mutations, particularly in the GDF6, GDF3, and MEOX1 genes, have been linked to Klippel-Feil syndrome. The GDF6 and GDF3 genes are involved in the development of bones in the baby before birth, while the MEOX1 gene deals with the separation of the bones in the spine. Changes in GDF6 and GDF3 are usually inherited in a way that if you get the abnormal gene from just one parent, you can get the disease. However, MEOX1 mutations must be inherited from both parents for the disease to develop.

Risk Factors and Frequency for Klippel Feil Syndrome

Klippel-Feil syndrome is a condition that affects about 1 out of every 40,000 to 42,000 newborns around the world. It’s slightly more common in females. Recent studies have shown that about 2.0% of cases were identified using MRI scans in a large group of 458 patients. Another study reviewed 1400 skeletons and found a 0.71% occurrence of the condition. It’s important to note that Klippel-Feil syndrome can sometimes show no symptoms. So, some children with this condition may grow up without knowing they have it, especially if they do not have visible physical deformities or undergo imaging tests on their neckline.

Signs and Symptoms of Klippel Feil Syndrome

Klippel-Feil syndrome is a condition that varies greatly in how it appears, depending on the severity and location of the impact on the neck bones. Less than 50% of patients show the classic three-part symptoms of Klippel-Feil syndrome. Challenges in evaluating the fusion of these neck bones from birth may be one reason for this. Furthermore, many cases are only found by accident, often through a radiographic exam which shows a single fused neck segment with no symptoms.

Kids with Klippel-Feil syndrome may have spinal stenosis from birth, which means they can have significant neurological damage even from a minor injury. The skeletal abnormalities can range from mild to severe and can affect both movement and neurological function. In severe cases, patients may have a twisted neck, difficulty with intubation, and insensitive to pain, which can lead to significant injuries like burns.

Klippel-Feil syndrome can also affect internal organs and result in audiovisual impairments. Heart abnormalities are also noted in 4.4% to 14% of individuals with the syndrome. The most common of these heart abnormalities including ventricular septal defects, aortic coarctation, aortic arch hypoplasia, aortic root aneurysm, and abnormal pulmonary vessel insertion.

Prenatal ultrasound or MRI examinations may show spine anomalies in affected individuals. Information from birth history may indicate complications during delivery and neonatal care. A delayed response to reaching developmental milestones may be a crucial sign to look for in children. Caregivers may also report similar conditions in other family members.

It’s important to thoroughly examine all bodily systems in newborns as Klippel-Feil syndrome may occur with various other anomalies. A craniofacial exam may show abnormalities such as facial dysmorphism, small head size, or a low hairline at the back of the head. Examination of the head and neck may show a short neck, limited neck mobility, and a twisted neck. A heart examination may detect murmurs if a cardiac disorder is present. Neurological signs can vary, with some patients showing normal responses, while others may exhibit abnormal function of the senses, motor skills, and reflexes.

Newborns showing skeletal abnormalities should be further assessed for related anomalies. For instance, babies diagnosed with Klippel-Feil syndrome might need an auditory brainstem response test to check for sensorineural deafness, and abdominal sonography could be employed to check for potential visceral anomalies like renal ectopia and Mullerian duplication.

Older children and adults should have a thorough physical examination, particularly if symptoms are progressing or if the Klippel-Feil syndrome is directly affecting a new illness, such as a respiratory infection. It’s crucial for all patients suspected of having Klippel-Feil syndrome to have a thorough neurological examination to check for sudden impairment of sensorimotor function and any bowel or bladder incontinence.

Testing for Klippel Feil Syndrome

If you have Klippel-Feil syndrome, you might also have other congenital conditions, which are conditions present from birth. Some of these might include Sprengel deformity, Duane syndrome, the absence of one or both kidneys (renal agenesis), Wildervanck syndrome, and various heart abnormalities. About half of the people with Klippel-Feil syndrome also have a curved spine (scoliosis). Similarly, around half have instability in the joint between the first two bones at the top of the spine (atlantoaxial instability). Furthermore, nearly 30% of patients have kidney disease, and another 30% have hearing problems (deafness).

To understand how well your organs are functioning, your doctor may need to carry out laboratory tests and images test like an ultrasound.

An ultrasound is a test that uses sound waves to create images of your body. In newborns, it can be used to safely create images of the brain, neck, and vital organs. Apart from spotting the joining or fusion of neck bones (a key sign of Klippel-Feil syndrome), ultrasound might reveal heart, gut, and kidney abnormalities related to Klippel-Feil syndrome. It might also show kidney and genital abnormalities that are not apparent during a physical examination.

X-rays can be used in older patients with Klippel-Feil syndrome. The x-rays can show the extent to which the neck bones have fused and whether the ribs and other parts of the spine are affected. The x-rays should include several views of the neck and spine in various positions. These images can help your doctor understand the stability of various joints in your neck and spine. Before procedures like inserting a tube into the windpipe for artificial breathing (intubation) or examining the voice box (laryngoscopy), a thorough examination of the neck is necessary because there is a risk of the neck bones moving abnormally (atlantoaxial subluxation) or the joint between the skull and the spine becoming dislocated (craniovertebral dislocation).

Imaging of the chest and lower back (thoracic and lumbar spine) is crucial for detecting conditions such as scoliosis, spinal bifida, or the presence of half a vertebra (hemivertebrae) in people with Klippel-Feil syndrome. X-rays taken while you bend and straighten your back can give valuable information about the stability and movement of your spine, especially if you do not have noticeable symptoms.

A computed tomography (CT) scan of your neck can provide a detailed look at your spine anatomy and bones, and it is particularly useful in showing any fusion of the bones in Klippel-Feil syndrome. A CT scan can also assess for narrowing of the spinal canal (central canal stenosis).

A magnetic resonance imaging (MRI) scan uses magnets and radio waves to create detailed images of your body. It’s a valuable tool for evaluating the spinal cord, discs spaces between the vertebrae, small nerve branches (rootlets), ligaments, and other soft tissues in people with Klippel-Feil syndrome. An MRI scan can spot other associated spinal cord abnormalities like Chiari malformations and diastematomyelia (a condition where the spinal cord splits into two). It’s particularly useful if you’re experiencing symptoms related to your nerves.

Laboratory testing should be guided by your doctor based on your clinical findings. For instance, heart or kidney dysfunction can lead to abnormal blood counts or changes in the levels of certain chemicals in your blood. Tests such as C-reactive protein and erythrocyte sedimentation rate can help rule out inflammation as a cause of pain in your joints or bones. If you’re about to have spinal corrective procedures, you may need to have tests to check for abnormal blood clotting.

Treatment Options for Klippel Feil Syndrome

Most people with Klippel-Feil syndrome are treated without surgery, unless they are experiencing severe neurological symptoms, have instability in their neck, or have long-term neurological issues that pose risks. The approaches to treatment are explained below.

Non-Surgical Management

The treatment for Klippel-Feil syndrome usually involves non-surgical measures that aim to ease symptoms. People with 1 or 2 fused sections in their spine below the C3 level are often just monitored and treated without surgery. They can even take part in contact sports like hockey and rugby, as long as they’re properly educated about their condition. However, individuals with a higher risk of spine abnormality, especially those with spinal fusion above the C3 level or long sections of their spine fused, should think about adjusting their activities. It’s important for these patients to avoid contact sports because they are at a higher risk of symptoms and susceptible to spinal injuries.

Healthcare providers should keep in mind that many people with Klippel-Feil syndrome have multiple symptoms at once. Pediatricians play a critical role in helping communication and coordination between various specialists to manage heart, kidney, or digestive system abnormalities, especially in younger patients. Teamwork amongst healthcare providers becomes even more important when patients are considered for surgery.

Surgical Management

Patients with lingering neurological pain, spinal cord issues, sudden weakness in muscle groups, and proven spinal instability may be considered for surgery. Decision-making for surgery is impacted by spinal deformity and instability. Based on the doctor’s evaluation, surgeons may choose to perform a neck fusion using either a front or back approach.

The front approach could include procedures such as removing one or more spinal bones (vertebrae) and replacing them with synthetic or bone grafts. A total disc replacement is being explored as a surgery option; it appears to promise in improving the quality of life and preventing further spine disease in adults with deteriorating conditions. Back approaches like decompression and fusion are another treatment option. For severe deformities, a combined front-back approach can be considered. Also, patients might need surgery or a brace for associated abnormal curves in the back (scoliosis).

Patients with hearing impairment might need to be evaluated by an ear, nose, and throat specialist. These evaluations help decide the need for treatments like cochlear implants or hearing aids.

What else can Klippel Feil Syndrome be?

Klippel-Feil syndrome is a condition that can be hard to diagnose in newborns because some other health conditions present with similar symptoms. These can affect various parts of a baby’s body. Conditions that can be mistaken for Klippel-Feil syndrome in newborns include:

• Mayer-Rokitansky-Küster-Hauser syndrome
• Vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal and limb defects (VACTERL)
• Wildervanck syndrome

It’s crucial to correctly diagnose each condition because this impacts how the child will be cared for in the short and long term.

In older children and adults, other conditions can also be misdiagnosed as Klippel-Feil syndrome. These conditions often cause symptoms like neck pain, lack of mobility, or shortening of the neck, which can look a lot like Klippel-Feil syndrome. Conditions to consider if Klippel-Feil syndrome is suspected include:

• Healing osteomyelitis or discitis
• Prior fusion without instrumentation
• Juvenile idiopathic arthritis
• Juvenile rheumatoid arthritis
• Ankylosing spondylitis

It’s really important for doctors to carry out thorough checks and tests to ensure they correctly diagnose these conditions and differentiate them from Klippel-Feil syndrome.

What to expect with Klippel Feil Syndrome

People with Klippel-Feil syndrome, a rare disorder characterized by the fusion of two or more spinal bones in the neck, who also have a cervical fusion occurring above the third cervical vertebra (C3), tend to have more noticeable symptoms. According to a study by Samartzis and colleagues, about two-thirds of these individuals don’t show any symptoms for more than 8 years.

However, some variations exist within these symptoms, based on the type of deformity present. Individuals with type I deformity usually have more axial symptoms – that is, symptoms related to the head, neck, and trunk. On the other hand, those with types II and III may develop myelopathy (a disorder that results from severe compression of the spinal cord) and radiculopathy (a condition caused by damage to nerve roots, leading to pain, weakness or numbness).

Possible Complications When Diagnosed with Klippel Feil Syndrome

People born with a condition where their neck bones are fused may be at risk for various health issues. These can include broken bones, diseases affecting the joints next to the fused ones, disc wear and tear, bone spur development, narrowed spinal canal, disc protrusion, and bony outgrowth. Regular check-ups and immediate treatment, which can sometimes involve surgery, could help lessen these complications and improve the condition of people with Klippel-Feil syndrome – a disorder characterized by the fusion of any two of the seven neck bones.

Health Issues That Can Occur:

• Broken bones
• Diseases affecting nearby joints
• Disc wear and tear
• Bone spur development
• Narrowed spinal canal
• Disc protrusion
• Bony outgrowth

Possible Interventions:

• Regular monitoring
• Prompt treatment
• Surgery, if needed

Preventing Klippel Feil Syndrome

It’s important for patients and their families to receive genetic counseling to guide decisions about family planning. Patients and parents should also be made aware of support groups like the Genetic and Rare Diseases Information Center and Klippel-Feil Syndrome Freedom. These groups provide education, management techniques, and emotional support to help individuals make the best possible decisions for their lives, based on how severe their condition is.

There are currently no specific rules about whether patients can take part in sports. However, certain precautions are recommended:

– Patients with type I lesions or type II fusions (which are specific kinds of genetic abnormalities) should not take part in any sports. These conditions might involve limited motion range, C2 (a vertebra in the neck) involvement, instability or spondylosis (a type of osteoarthritis), and anomalies at the junction of the skull and neck.

– Sports participation is generally not recommended for patients with type II lesions who have ever experienced temporary quadriplegia (a type of paralysis that affects all four limbs).

– Patients with type II lesions located below C3 (another vertebra in the neck), who have good neck motion and do not have instability or spondylosis, might be able to engage in sports after learning about the associated risks and precautions.

In terms of treatment, if a surgical procedure is not an option, doctors need to clearly explain other treatment approaches to the patient and their parents. It’s essential to provide a realistic expectation about what the achievable outcomes might be for those considering surgical treatment.