Klippel–Feil syndrome

Also known as: Cervical vertebral fusion syndrome

Congenital fusion of cervical vertebrae.

Medical 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

Etiology & mechanism

Failure of segmentation of cervical somites.

Gene(s) involved (6)

GDF3GDF6MEOX1MYO18BPAX1RIPPLY2

Symptoms & signs (7)

cardiac anomaliesdeafnesslimited neck motionlow posterior hairlinescoliosisshort necksprengel deformity

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.