What is Klippel-Feil syndrome?
Klippel-Feil syndrome (KFS) is a rare medical condition in which at least two of the seven neck bones in the upper spine (cervical vertebrae) are fused together. Other key features of KFS include a short neck, limited neck movement, and a low hairline on the back of the head. Having said this, the specific health problems present in KFS often are different from one individual to another and all of the symptoms may not occur in one person. Some people living with KFS may also have other medical issues such as differences in kidney, uterine, and heart formation, chronic nerve and musculoskeletal pain, painful involuntary tensing of the neck muscles (cervical dystonia), webbing between some fingers (syndactyly), and other bony changes such as missing ribs, unusually formed bones in the head and face, shoulder blades at different levels on the back (Sprengel's deformity), abnormal spinal curvature (scoliosis), narrowing of the spinal canal (spinal stenosis), and the inability of the spinal column (vertebrae) to maintain its standard shape and function during daily activities (vertebral instability).
KFS can be caused by a new gene change, a gene change inherited from one or both parents, or as a bone formation issue that does not run in the family. Doctors have grouped KFS into different forms based on symptoms and pattern of inheritance (or not); however some individuals with KFS don't fit exactly into one of the groups.
SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/klippel-feil-syndrome-109938/overview/66919 • DATE UPDATED: 2019-04-25
Klippel-Feil Syndrome, NORD, https://rarediseases.org/rare-diseases/klippel-feil-syndrome/
"Isolated Klippel-Feil syndrome" Orphanet, https://www.orpha.net/consor/cg,i-bin/OC_Exp.php?Lng=GB&Expert=2345