Klippel-Feil syndrome 1, autosomal dominant

Common Name(s)

Klippel-Feil syndrome 1, autosomal dominant

Klippel-Feil syndrome (KFS) is a congenital anomaly characterized by a defect in the formation or segmentation of the cervical vertebrae, resulting in a fused appearance. The clinical triad consists of short neck, low posterior hairline, and limited neck movement, although less than 50% of patients demonstrate all 3 clinical features ({22:Tracy et al., 2004}). Genetic Heterogeneity of Klippel-Feil Syndrome Additional forms of KFS include autosomal recessive KFS2 ({214300}), caused by mutation in the MEOX1 gene ({600147}) on chromosome 17q21, and autosomal dominant KFS3 ({613702}), caused by mutation in the GDF3 gene ({606522}) on chromosome 12p13. See also MURCS association ({601076}), in which Klippel-Feil anomaly is associated with urogenital anomalies.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Klippel-Feil syndrome 1, autosomal dominant" 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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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Klippel-Feil syndrome 1, autosomal dominant" 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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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 1, autosomal dominant" returned 0 free, full-text research articles on human participants.

Reviews from the PubMed Database

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The terms "Klippel-Feil syndrome 1, autosomal dominant" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.