Klippel-Feil syndrome

Common Name(s)

Klippel-Feil syndrome

Klippel-Feil syndrome is a rare set of birth defects, or a syndrome, that is characterized by the abnormal joining (fusion) of two or more spinal bones in the neck (cervical vertebrae). Three major features result from the abnormality: a short neck, a limited range of motion in the neck, and low hairline at the back of the head. Most people have one or two of these features, but less than 50% of people affected have all three. Over time this condition may cause neck and back pain in affected areas, involuntary arm movements, joint pain (osteoarthritis) around affected areas, and nerve damage in the head, neck, or back, which can compress and damage the spinal cord. Other symptoms may include: hearing difficulties, malformed kidneys, and opening in the roof of the mouth (cleft palate), underdeveloped shoulder blades, and heart abnormalities.

Klippel-Feil syndrome occurs in approximately 1 in every 40,000 newborns, and females are affected slightly more often than males. This condition is inherited as either autosomal dominant or recessive depending upon where the gene change or mutation is located. We inherit our genes in pairs, one from each parent. Our genes are what control the growth, development and function of our bodies. Autosomal dominant means that if one parent has the condition (therefore the gene change or mutation) there is a 50% chance that they will pass it on to each of their children. Autosomal recessive means that each parent must be a carrier of the mutation (but not affected) and the child would need to inherit both copies of the gene change to be affected. When both parents are unaffected carriers, each of their children has a 1 in 4 chance of being affected. There are two dominant forms, type 1 and type 3 and type 2 is the recessive form. All three forms present with the same physical features. Treatment varies on a case-by-case basis depending on the specific features present.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Klippel-Feil syndrome" for support, advocacy or research.

Klippel-Feil Syndrome Alliance

The Klippel-Feil Syndrome Alliance aims to unite individuals across the globe who are affected by KFS with the scientists and health practitioners who study and treat them, and empower people to advocate for improved access to needed care, pain reduction, and higher quality of life.

Last Updated: 5 Aug 2013

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Klippel-Feil Syndrome Freedom

Klippel-Feil Syndrome Freedom empowers and unites patients and their families through peer support, education, research, and advocacy, for a lifetime of improved health care.

Last Updated: 2 Dec 2014

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General Support Organizations

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Klippel-Feil syndrome" for support, advocacy or research.

Klippel-Feil Syndrome Alliance

The Klippel-Feil Syndrome Alliance aims to unite individuals across the globe who are affected by KFS with the scientists and health practitioners who study and treat them, and empower people to advocate for improved access to needed care, pain reduction, and higher quality of life.

http://kfsalliance.org/

Last Updated: 5 Aug 2013

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Klippel-Feil Syndrome Freedom

Klippel-Feil Syndrome Freedom empowers and unites patients and their families through peer support, education, research, and advocacy, for a lifetime of improved health care.

https://www.facebook.com/KlippelFeilSyndromeFreedom

Last Updated: 2 Dec 2014

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Klippel-Feil syndrome" returned 50 free, full-text research articles on human participants. First 3 results:

Case images: A case of Klippel-Feil syndrome with congenital cardiovascular anomalies.
 

Author(s): Emrah Bayram, Macit Kalçık, Mahmut Yesin, Mehmet Özkan

Journal: Turk Kardiyol Dern Ars. 2015 Jul;43(5):495.

 

Last Updated: 7 Jul 2015

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A case report of amyotrophic lateral sclerosis in a patient with Klippel-Feil syndrome—a familial occurrence: a potential role of TGF-β signaling pathway.
 

Author(s): Zygmunt Jamrozik, Malgorzata Gawel, Katarzyna Szacka, Leopold Bakon

Journal: Medicine (Baltimore). 2015 Jan;94(4):e441.

 

The rationale for this article is a description of a unique, familial case of a patient with amyotrophic lateral sclerosis (ALS), a progressive neurodegenerative disorder of unknown etiology coexisting with Klippel-Feil syndrome (KFS), a congenital malformation of cervical vertebrae, ...

Last Updated: 30 Jan 2015

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Repeated anesthetic management for a patient with Klippel-Feil syndrome.
 

Author(s): Yuri Hase, Nobuhito Kamekura, Toshiaki Fujisawa, Kazuaki Fukushima

Journal: Anesth Prog. 2014 ;61(3):103-6.

 

Klippel-Feil syndrome (KFS) is a rare disease characterized by a classic triad comprising a short neck, a low posterior hairline, and restricted motion of the neck due to fused cervical vertebrae. We report repeated anesthetic management for orthognathic surgeries for a KFS patient ...

Last Updated: 6 Sep 2014

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Klippel-Feil syndrome" returned 2 free, full-text review articles on human participants. First 3 results:

Surgical treatment in a patient with Klippel-Feil syndrome and anterior cervical meningomyelocele: a case report and review of literature.
 

Author(s): Benjamin Brokinkel, Karsten Wiebe, Volker Hesselmann, Timm J Filler, Christian Ewelt, Cornelie Müller-Hofstede, Walter Stummer, Mark Klingenhöfer

Journal: Eur Spine J. 2013 May;22 Suppl 3():S517-20.

 

Klippel-Feil syndrome (KFS) is considered a rare developmental disorder characterized by mono- or multisegmental fusion of the cervical vertebrae which is frequently associated with diverse non-osseous, e.g. neural, visceral, cardiopulmonary and genitourinary development anomalies. ...

Last Updated: 2 May 2013

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Uncommon manifestations of Klippel Feil syndrome.
 

Author(s): Manish Narang, Jagdish Prasad Goyal

Journal: Indian Pediatr. 2006 Mar;43(3):265-6.

 

Last Updated: 4 Apr 2006

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Rare Disease Patient Registry: Coordination of Rare Diseases at Sanford
 

Status: Recruiting

Condition Summary: Rare Disorders; Undiagnosed Disorders; Disorders of Unknown Prevalence; Cornelia De Lange Syndrome

 

Last Updated: 17 Nov 2015

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