Klippel-Feil Syndrome (KFS) is associated with several genetic mutations resulting in similar clinical findings.
Chromosome location: 17q21.31
Gene affected: MEOX1 (mesenchyme homeobox 1)
Inheritance: autosomal recessive
Clinical triad (often incomplete):
(1) short neck
(2) low posterior hairline
(3) limited neck movement associated with fusion and defects in cervical vertebrae, with most rostral fusion at C1
Other findings may include:
(1) Sprengel deformity with elevated scapula
(2) Poland anomaly
(3) scoliosis
(4) anomalies of the foramen magnum
(5) craniofacial anomalies including micrognathia
(6) cardiac malformations
(7) other skeletal malformations
(8) hearing loss
