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.

http://kfsalliance.org/

Last Updated: 5 Aug 2013

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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

View Details

 

General Support Organizations

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

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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The association of Chiari type III malformation and Klippel-Feil syndrome with mirror movement: a case report.
 

Author(s): Fatih Serhat Erol, Necati Ucler, Huseyin Yakar

Journal: Turk Neurosurg. 2011 ;21(4):655-8.

 

Basically Chiari type III malformation is a combination of encephalocele with of brain stem and cerebellar abnormality. Although Klippel-Feil syndrome may be associated with other congenital anomalies, this syndrome is mainly associated with varying degrees of cervical vertebral fusion ...

Last Updated: 23 Dec 2011

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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 1 free, full-text review articles on human participants. First 3 results:

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.