Klippel-Feil Syndrome Case Study

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Klippel-Feil Syndrome: An Overview
According to the National Organization for Rare Disorders (2016), Klippel-Feil syndrome (KFS) is a rare disorder of the skeletal system characterized by cervical spine fusion of two or more vertebrae. The disorder was first documented in 1912 by two doctors Maurice Klippel and Andre Feil (NORD, 2016). Individuals with KFS often exhibit the hallmark features such as a short neck, low hairline, and limited neck mobility. Additional associated malformations may include scoliosis, hearing loss, disorders of the eyes as well as various problems occurring in the pulmonary, cardiac, and genitourinary systems to name a few. While KFS is a complex, multi-level disorder, the following will focus on the personal interest of the topic, principles of heredity, molecular, and genetic variations as well as bioethical issues regarding the syndrome. Classifications According to Lang (2009), KFS is classified into four district subdivisions primarily based on location of corresponding fusion: Type I: Massive fusion of cervical vertebrae Type II: Fusion of one or two cervical vertebrae Type III: Lower thoracic or lumbar vertebral involvement along with types I or II Type IV: Includes sacral agenesis While there is a spectrum of anomalies associated with KFS, treatment typically consists of a symptomatic approach; however, those individuals with cervical spine instability have the potential for disastrous outcomes as reports of quadriplegia and / or death have been reported following minor traumatic injuries (Lang, 2009). Interest While the research concerning KFS is interesting in itself, the fascination with Klippel-Feil syndrome actually stems from personal experience with the disorder as a biologic parent of a male offspring born with the syndrome in 2009. Since the birth of a child unexpectedly born with KFS along with a vast association of multi-system anomalies, it has become a personal mission to understand the disorder; the focus consists of gaining further knowledge regarding the genetic prevalence of the rare syndrome. Heredity The principle of heredity focuses on how genes are passed from one generation to the next (Pierce, 2015). One cannot examine the principles of heredity without discussing the works of Gregory Mendal. While Mendal had numerous principles, overall he concluded genetic factors were received from both parents, and his identification of dominant and recessive traits can be described as well (Pierce, 2015). Therefore, the principle of heredity applies to Klippel-Feil syndrome as inheritance of the disorder has been identified in many cases. According to Lang (2009), there have been two inheritance patterns identified in KFS autosomal dominant and autosomal recessive. In addition, there are also cases identified as sporadic in nature. Molecular Genetics In an effort to avoid delving into an embryology analysis, Klippel-Feil Syndrome has been linked to failure of mesodermal somite division, which typically occurs during weeks three and eight gestation (Lang, 2009). Researchers believe this anomaly is related to an alteration or mutation of the PAX 1 gene; this gene is responsible for encoding transcription factors, which regulate spinal segmentation and resegmentation (Lang, 2009). Genetic variation As briefly described in the aforementioned text, KFS typically occurs due to a gene mutation. According to the US Department of Health and Human Services (2016), mutations in genes, GDF6, GDF3, and MEOX1 have all been identified in the syndrome; however, the gene affected often correlates with the specific classification system mentioned in earlier
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Bioethical issues Matters concerning bioethical issues in genetics is not one that is often unheard of in research today. Funding and continued research for KFS appear minimal as extensive research has uncovered little data since the gene identified as being responsible for the syndrome has been named. Nonetheless, gene therapy trials for rare diseases continue to be utilized for more common disease processes, and new trials are beginning to surface for other rare diseases as well (Resnik, 2012).
While gene therapy in humans has the potential to cure and prevent diseases, controversy remains. This includes risk associated with human gene therapy, which may include death; other ethical issues concerning altering human traits and discrimination exist as well (Resnik, 2012). From a personal perspective, one can merely hope for advancements, including prevention and / or treatment through gene therapy once a safe and ethically sound protocol exists.

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