Klippel-Feil syndrome

Joseph R Siebert PhD (Dr. Siebert of the University of Washington has no relevant financial relationships to disclose.)
Harvey B Sarnat MD FRCPC MS, editor. (Dr. Sarnat of the University of Calgary has no relevant financial relationships to disclose.)
Originally released May 19, 1999; last updated June 14, 2017; expires June 14, 2020

This article includes discussion of Klippel-Feil syndrome, Klippel-Feil anomaly, Klippel-Feil deformity, and Klippel-Feil sequence. The foregoing terms may include synonyms, similar disorders, variations in usage, and abbreviations.

Overview

The author reviews the basic biological issues surrounding the pathogenesis, clinical manifestations, and progression of Klippel-Feil syndrome, a condition involving fusion of cervical vertebrae and associated changes in neck length and mobility and low hairline posteriorly; the condition is usually sporadic, but may be autosomal dominant or recessive. Genes associated with dominant forms are GDF3 and GDF6. Two genes associated with recessive conditions, MEOX1 and RIPPLY2, have been identified in consanguineous families. On occasion, Klippel-Feil syndrome is associated with other disorders, thus, complicating the clinical course. Recent discoveries have centered primarily on associated conditions, complications, and their treatment, much of which involves corrective surgery.

Key points

 

• Klippel-Feil syndrome is a condition involving fusion of cervical vertebrae and associated changes in neck length and mobility, with low hairline posteriorly.

 

• The condition is usually sporadic but may be autosomal dominant or recessive. Several genes (GDF3, GDF6, MEOX1, and RIPPLY2) have been identified; the search for other candidate genes is ongoing.

 

• On occasion, Klippel-Feil syndrome is associated with other anomalies or conditions, thus complicating the clinical course.

 

• Recent discoveries have centered primarily on associated conditions, complications, and their treatment, much of which involves corrective surgery.

Historical note and terminology

Klippel-Feil syndrome is a clinical triad consisting of fusion of cervical (and sometimes other) vertebrae, with associated shortening of the neck, limited head motion, and a low posterior hairline. Most cases are sporadic, although autosomal dominant and autosomal recessive cases are recognized.

The characteristic changes have been recognized in an Egyptian mummy from 500 BC and in descriptions dating from the 13th to 16th centuries (Nobel and Frawley 1925; Gunderson et al 1967; Fernandes and Costa 2007). Klippel and Feil published the description on which the syndrome is based (Klippel and Feil 1912); Feil later defined 3 subtypes (Feil 1919). Since that time, many papers have been published; 2 classic reviews are by Gunderson and colleagues (Gunderson et al 1967), and Helmi and Pruzansky (Helmi and Pruzansky 1980).

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