Klippel–Feil syndrome with neurological involvement

Also known as: Klippel–Feil syndrome

Congenital cervical vertebral fusion.

Medical specialty: Neurology
Subspecialty: Neurology / Neurosurgery; Genetics
Sex & age distribution: Male: affected; Female: affected, slightly more common; Children: yes, congenital
Gene(s) involved: GDF3, GDF6, MEOX1, PAX1, RIPPLY2

Etiology & mechanism

GDF6, GDF3, MEOX1 mutations in some.

Gene(s) involved (5)

GDF3GDF6MEOX1PAX1RIPPLY2

Symptoms & signs (3)

limited neck motionlow hairlineshort neck

Note

Primarily skeletal; verify

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