Klippel-Feil Syndrome by Jaylen Lee https://padlet.com/kooljay319/mmqp7f64879a Made by Jaylen and Bryan en-us 2018-05-07 17:47:38 UTC 2023-05-25 11:39:28 UTC hello@padlet.com Slide 1 kooljay319 https://padlet.com/kooljay319/mmqp7f64879a/wish/259394827 Klippel-Feil Syndrome 
Jaylen Lee and Bryan De La Paz
5/7/18-5/23/18]]> 2018-05-09 17:52:30 UTC https://padlet.com/kooljay319/mmqp7f64879a/wish/259394827 Slide 2 bry4n20041 https://padlet.com/kooljay319/mmqp7f64879a/wish/259395017 The disorder is called Klippel-Feil Syndrome and is a very rare disease. 1 in 40,000 newborns worldwide are affected with this disease.]]> 2018-05-09 17:53:01 UTC https://padlet.com/kooljay319/mmqp7f64879a/wish/259395017 Slide 4 kooljay319 https://padlet.com/kooljay319/mmqp7f64879a/wish/259400720 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.]]> 2018-05-09 18:05:20 UTC https://padlet.com/kooljay319/mmqp7f64879a/wish/259400720 Slide 6 bry4n20041 https://padlet.com/kooljay319/mmqp7f64879a/wish/261994584 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. ]]> 2018-05-18 17:03:19 UTC https://padlet.com/kooljay319/mmqp7f64879a/wish/261994584 Slide 3 kooljay319 https://padlet.com/kooljay319/mmqp7f64879a/wish/261994961 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. ]]> 2018-05-18 17:04:23 UTC https://padlet.com/kooljay319/mmqp7f64879a/wish/261994961 Slide 7 bry4n20041 https://padlet.com/kooljay319/mmqp7f64879a/wish/262000458 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.]]> 2018-05-18 17:21:36 UTC https://padlet.com/kooljay319/mmqp7f64879a/wish/262000458 Slide 5 kooljay319 https://padlet.com/kooljay319/mmqp7f64879a/wish/262003494 Klippel-Feil Syndrome was reported for the first time in 1884 by Maurice Klippel and Andre Feil from France]]> 2018-05-18 17:31:17 UTC https://padlet.com/kooljay319/mmqp7f64879a/wish/262003494 Slide 8 bry4n20041 https://padlet.com/kooljay319/mmqp7f64879a/wish/262005722 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. ]]> 2018-05-18 17:37:25 UTC https://padlet.com/kooljay319/mmqp7f64879a/wish/262005722 Slide 11 bry4n20041 https://padlet.com/kooljay319/mmqp7f64879a/wish/262007553 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.]]> 2018-05-18 17:42:16 UTC https://padlet.com/kooljay319/mmqp7f64879a/wish/262007553 Slide 12 bry4n20041 https://padlet.com/kooljay319/mmqp7f64879a/wish/262010654 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. 

 

 
 
]]> 2018-05-18 17:51:12 UTC https://padlet.com/kooljay319/mmqp7f64879a/wish/262010654 Slide 9 bry4n20041 https://padlet.com/kooljay319/mmqp7f64879a/wish/262453805 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. ]]> 2018-05-21 17:51:41 UTC https://padlet.com/kooljay319/mmqp7f64879a/wish/262453805 Slide 10 bry4n2004 https://padlet.com/kooljay319/mmqp7f64879a/wish/262524672 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.]]> 2018-05-21 23:11:19 UTC https://padlet.com/kooljay319/mmqp7f64879a/wish/262524672