Klippel-Feil syndrome

Common Name(s)

Klippel-Feil syndrome

Klippel Feil syndrome is a musculoskeletal disorder that is present from birth. It is characterized by the fusion of at least two vertebrae of the neck. Most cases are sporadic but in some cases, it can be inherited in an autosomal dominant or autosomal recessive fashion. Common symptoms of Klippel Feil syndrome include short neck, low hairline at the back of the head, and restricted mobility of the upper spine.
 

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 40 free, full-text research articles on human participants. First 3 results:

Mutation in MEOX1 gene causes a recessive Klippel-Feil syndrome subtype.
 

Author(s): Fatih Bayrakli, Bulent Guclu, Cengiz Yakicier, Hatice Balaban, Ugur Kartal, Bekir Erguner, Mahmut Samil Sagiroglu, Sirin Yuksel, Ahmet Rasit Ozturk, Burak Kazanci, Unal Ozum, Hamit Zafer Kars

Journal:

 

Klippel-Feil syndrome (KFS) is characterized by the developmental failure of the cervical spine and has two dominantly inherited subtypes. Affected individuals who are the children of a consanguineous marriage are extremely rare in the medical literature, but the gene responsible ...

Last Updated: 15 Nov 2013

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Management issues in a complex case of basilar invagination associated with a large fourth ventricular dermoid and Klippel-Feil syndrome.
 

Author(s): Narayanam Anantha Sai Kiran, Sunil Valentine Furtado, Nandita Ghosal, Alangar S Hegde

Journal: Neurol India. ;61(2):189-91.

 

Last Updated: 6 May 2013

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Stratified whole genome linkage analysis of Chiari type I malformation implicates known Klippel-Feil syndrome genes as putative disease candidates.
 

Author(s): Christina A Markunas, Karen Soldano, Kaitlyn Dunlap, Heidi Cope, Edgar Asiimwe, Jeffrey Stajich, David Enterline, Gerald Grant, Herbert Fuchs, Simon G Gregory, Allison E Ashley-Koch

Journal:

 

Chiari Type I Malformation (CMI) is characterized by displacement of the cerebellar tonsils below the base of the skull, resulting in significant neurologic morbidity. Although multiple lines of evidence support a genetic contribution to disease, no genes have been identified. We ...

Last Updated: 26 Apr 2013

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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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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.