Football players are used to taking hits. Oftentimes, it only takes one to change everything for a single player, which was the case for wide receiver Justyn Ross. His collision with a linebacker in 2022 revealed, through neck and spine tests, that he had a congenital fusion in his spine, a condition that he was born with called Klippel-Feil Syndrome. [13] Klippel-Feil Syndrome (KFS) is a congenital anomaly characterized by the abnormal fusing of two or more upper vertebrae occurring in roughly 1 in 40,000 births due to errors in the division of the embryo into organized, repeating segments that later form the blueprint for the spine, muscles, and peripheral nervous system. This is sometimes linked to genetic mutations. When mutations are at the source of this phenotype, KFS can be genetically inherited, but otherwise it usually is not. [9] While different surgical procedures are available to manage different manifestations of this disease, the outcomes are unpredictable, and the risk of severe complications continues to persist. [2]
For a long time, researchers have associated KFS with a triad of classic symptoms: an abnormally short neck, a lower hairline at the back of the head, and limited neck mobility. This can present in abnormalities such as chronic headaches, decreased mobility of the neck, and neck pain. [1] However, these have now been determined to define only one class of KFS, which actually makes up less than 50 percent of affected individuals. [9] Beyond the fusion of vertebrae in the neck, KFS can be associated with other anomalies that affect many of the body's organ systems. For instance, individuals have other skeletal defects, such as fusion of certain rib bones or abnormal curving of the spine (better known as scoliosis), as well as structural malformations of the heart. [2] Four different classifications of KFS have been made to clarify and detail the classes for KFS patients and hopefully support clinical decisions surrounding possible prognoses, complications, and inheritance. Class 1 is associated with a short neck, Class 2 is associated with skeletal defects, Class 3 with abnormal patterns of physical development, particularly in the face, and Class 4 with variable defects, including cardiac and skeletal anomalies. [8]
Researchers have identified genetic mutations, such as GDF3, GDF6, and MEOX1, that contribute to gaining a better understanding of the cause of this disease. The GDF3 protein is involved in bone and cartilage development, but scientists are still unsure of its exact role. The GDF6 gene encodes a protein required for forming bones and joints, as well as for the establishment of boundaries between bones during skeletal development. The MEOX1 protein directs the formation of spinal and vertebral structures during early embryonic development. [10] Together, these three genes are crucial for the correct development of all bones, and it is possible that an individual with KFS and vertebral fusion has genetic mutations in at least one of these three genes.
Depending on how the disorder presents, it may be managed surgically or nonsurgically, but the outcomes can still be unpredictable. Since fused vertebrae can’t be fully separated, KFS cannot be fully reversed, but surgery can help to stabilize the cervical spine or correct a spinal deformity to alleviate pressure on a nerve root, for instance. However, a thorough medical evaluation must be performed to ensure other conditions and abnormalities, such as those in the heart and lungs, do not exist that might make treatments with general anesthesia much more risky. [11] On the other hand, less invasive measures for treating KFS can include team care, self-care, and general techniques for coping with chronic pain. Diagnosing and treating patients with KFS requires interprofessional collaboration, making up a team of medical staff personnel such as neurologists, orthopedic surgeons, and physical therapists. Some potential self-care avenues address neck pain or headaches, such as with ice or heat therapy on the affected areas, and over-the-counter medications. If self-care measures do not provide enough relief, the doctors could recommend prescription pain medications, anti-inflammatory steroid injections or anesthetics, and radiofrequency ablation, where a procedure uses a radiofrequency needle to heat a pain-transmitting nerve to create a heat lesion, which prevents the nerve from sending pain signals to the brain. [12] Therefore, a comprehensive outlook on care would be the most effective approach to optimize outcomes for patients with KFS. [5] Key avenues of support and funding for these therapies for KFS include grants from the Scoliosis Research Society, the Pediatric Spine Foundation, and the NIH.
Not only do these effects decrease the quality of life for KFS patients physically, but this can also place a great deal of emotional and psychological burden on them as well. Many of those with KFS can feel a significant social impact due to the physical manifestations of the disease, which was described by one individual as leading to him feeling “different.” [3] Even when exercising, doctors have recommended only doing low-impact sports to refrain from intense exertion. [3] Even sports superstars like the aforementioned Justyn Ross face the possibility of never again playing the sport they love because of this condition. Living with a rare disease also further creates unique challenges, such as misdiagnoses, difficulty getting treatment, and limited access to specialists and mental health support. [4] It is immensely frustrating when it seems like even medical professionals do not understand why the patient is feeling pain, but the feeling of relief when a doctor recognizes exactly where the pain is coming from and the symptoms is unparalleled. [14]
Currently, KFS continues to be a very underrepresented disorder both in advocacy and in media representation. Advocacy for KFS is mostly limited to medical literature and patient awareness organizations, which include Klippel-Feil Syndrome Freedom and Klippel-Feil Syndrome Alliance. These groups hope to empower and unite those affected by KFS as well as their families through the advancements of research, education, and support from peers.
References
[1] https://www.ncbi.nlm.nih.gov/books/NBK493157/
[2] https://rarediseases.org/rare-diseases/klippel-feil-syndrome/
[3] https://www.rarediseaseday.org/heroes/when-life-becomes-a-pain-in-the-neck/
[4] https://www.rareportal.org.au/rare-disease/klippel-feil-syndrome/#toc_Clinical_Care_Team
[5] https://www.ncbi.nlm.nih.gov/books/NBK493157/#article-23908.s9
[6] https://pubmed.ncbi.nlm.nih.gov/9880643/
[7] https://pmc.ncbi.nlm.nih.gov/articles/PMC8149017/
[8] https://thejns.org/focus/view/journals/neurosurg-focus/41/1/article-pE3.xml
[9] https://my.clevelandclinic.org/health/diseases/23919-klippel-feil-syndrome-kfs
[10] https://www.ivami.com/en/genetic-testing-human-gene-mutations-diseases-neoplasias-and-pharmacogenetics/3887-genetic-testing-klippel-fiel-syndrome-klippel-feil-syndrome-genes-gdf3-gdf6-and-meox1
[11] https://www.spine-health.com/conditions/neck-pain/klippel-feil-syndrome-treatment
[12] https://www.spine-health.com/treatment/injections/radiofrequency-ablation-rfa
[13] https://www.espn.com/nfl/draft2022/story/_/id/33690309/nfl-draft-2022-following-congenital-fusion-spine-justyn-ross-looks-make-nfl-history
[14] https://www.nicklauschildrens.org/news-and-events/patient-stories/tiffany-klippel-feil-syndrome
