Neurology · Neurology / Neurosurgery; Genetics

Klippel–Feil syndrome with neurological involvement

also: Klippel–Feil syndrome

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Congenital cervical vertebral fusion.

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
Alternative names & eponyms: Klippel–Feil syndrome
Note: Primarily skeletal; verify

Etiology & mechanism

GDF6, GDF3, MEOX1 mutations in some.

Gene(s) involved (5)

GDF3 GDF6 MEOX1 PAX1 RIPPLY2

Symptoms & signs (3)

In plain terms, someone with Klippel–Feil syndrome with neurological involvement may experience the following — click any to explore related syndromes:

limited neck motion low hairline short neck