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
