Congenital fusion of cervical vertebrae.
- Specialty
- Orthopedics
- Subspecialty
- Orthopedics / Spine
- Sex & age distribution
- Male: affected; Female: affected, slight female predominance; Children: yes, congenital
- Gene(s) involved
- GDF3, GDF6, MEOX1, MYO18B, PAX1, RIPPLY2
- Alternative names & eponyms
- Cervical vertebral fusion syndrome
Etiology & mechanism
Failure of segmentation of cervical somites.
Gene(s) involved (6)
Symptoms & signs (7)
In plain terms, someone with Klippel–Feil syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
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Shares symptoms with
2 shared
Klippel–Feil syndrome with neurological involvement
limited neck motion, short neck
2 shared
Sotos syndrome
cardiac anomalies, scoliosis
1 shared
Congenital rubella syndrome
deafness
1 shared
Fechtner syndrome
deafness
1 shared
GATA2 deficiency syndrome
deafness
1 shared
Hyperimmunoglobulin E syndrome
scoliosis
1 shared
Job syndrome
scoliosis
1 shared
Johanson–Blizzard syndrome
deafness
1 shared
Kallmann syndrome with neurological involvement
deafness
1 shared
Kearns–Sayre syndrome
deafness
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