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Klippel-Feil Syndrome
Jaylen Lee and Bryan De La Paz
5/7/18-5/23/18

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The disorder is called Klippel-Feil Syndrome and is a very rare disease. 1 in 40,000 newborns worldwide are affected with this disease.

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Klippel-Feil Syndrome is present from birth. It’s the fusion of two or more spinal bones in the neck. The most common symptoms include a low hairline at the back of the head, a short neck, and limited neck range of motion. KFS affects the central nervous system and skeletal system.

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Klippel-Feil Syndrome is diagnosed when X-rays, or any imaging techniques, show fusion of cervical vertebrae. People with this syndrome can live normal, active lives. However, people with Klippel-Feil Syndrome live up to 45 years, on average.

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Klippel-Feil Syndrome was reported for the first time in 1884 by Maurice Klippel and Andre Feil from France

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Researchers think KFS occurs when the tissue of the embryo that normally develops into separate vertebrae doesn’t divide correctly. There’s a 50% chance, no matter the gender. Klippel-Feil Syndrome is caused by mutations in the GDF6 or GDF3 genes and inherited in an autosomal dominant manner or mutations in MEOX1 and inherited in an autosomal recessive manner.

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Klippel-Feil Syndrome can be caused sporadically or it can be inherited as well. Yes, it is a nondisjunction.  KFS may be inherited as an autosomal dominant or autosomal recessive trait. It is not codominant.

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There is no cure for KFS. Various people with KFS might need surgery to repair other skeletal abnormalities, like kidneys, ears, eyes, or other parts of the body. There are some therapies available.

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There are several therapies that can help with KFS including physiotherapy and occupational therapy. You can also go through surgical treatment, like cervical arthroplasty, to treat abnormal fusion and stabilize the spinal column and treat chronic or severe pain.

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It was found that King Tut might have had KFS. The hypothesis was rejected in another study from a group while assessing the skull and cervical spine, determining the cause of death, but there is still controversy on this.

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People with this disease, the prognosis depends on the specific features and how severe it is. You can attend specialists and officials for help. Additional signs and symptoms can highly vary depending on each affected person.

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https://rarediseases.info.nih.gov/diseases/10280/klippel-feil-syndrome, Genetic and Rare Diseases Information Center, Klippel Feil syndrome, May 18, 2018, National Center for Advancing Translational Sciences, August 4, 2017

Klippel-Feil Syndrome Information Page. NINDS. February 2, 2016; https://www.ninds.nih.gov/Disorders/All-Disorders/Klippel-Feil-Syndrome-Information-Page, May 18, 2018, May 25, 2017

Klippel-Feil syndrome. Genetics Home Reference. June, 2015; http://ghr.nlm.nih.gov/condition/klippel-feil-syndrome, May 18, 2018.

Dr Dino Samartzis and Francis Shen. Isolated Klippel-Feil syndrome. Orphanet. June, 2007; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2345, May 18, 2018.