Klippel-Feil syndrome
Findings
No curated finding names Klippel-Feil syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A congenital, musculoskeletal condition characterized by the fusion of at least two vertebrae of the neck. Common symptoms include a short neck, low hairline at the back of the head, and restricted mobility of the upper spine. This syndrome can cause chronic headaches as well as pain in both the neck and the back.Other features may involve various other body parts or systems. Sometimes, KFS occurs as a feature of another disorder or syndrome, such as Wildervanck syndrome or hemifacial microsomia. In these cases, people have the features of both KFS and the additional disorder. KFS may be caused by mutations in the GDF6 or GDF3 gene and inherited in an autosomal dominant manner; or, it may be caused by mutations in the MEOX1 gene and inherited in an autosomal recessive manner. Treatment is symptomatic and may include medications, surgery, and/or physical therapy.
Definition from the Mondo Disease Ontology (MONDO:0001029), read 2026-09-29. CC BY 4.0.
Features
32 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal vertebral segmentation and fusionHPOHP:0005640
- Very frequent (80% to 99% of cases)
- Abnormality of the vertebral columnHPOHP:0000925
- Very frequent (80% to 99% of cases)
- Cervical C2/C3 vertebral fusionHPOHP:0004602
- Very frequent (80% to 99% of cases)
- Facial asymmetryHPOHP:0000324
- Very frequent (80% to 99% of cases)
- Limitation of neck motionHPOHP:0005986
- Very frequent (80% to 99% of cases)
Where it sits
Other names
1 name
Resolves to: Klippel-Feil syndrome
- Also called
- Klippel-Feil Sequence