Klippel-Feil Syndrome (KFS) is associated with several genetic mutations resulting in similar clinical findings.

Chromosome location: 8q22.1

Gene affected: GDF6


Inheritance: autosomal dominant


Clinical triad (often incomplete):

(1) short neck

(2) low posterior hairline

(3) limited neck movement associated with defects in cervical vertebrae, often at C2-C3


Other findings may include:

(1) deafness (sensorineural, conductive, mixed)

(2) cleft lip and/or palate

(3) cardiac malformations

(4) micrognathia

(5) other skeletal malformations

(6) urogenital anomalies

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