Living with Klippel-Feil syndrome
A bone condition present from birth in which two or more neck bones are joined, which may cause a short neck, low hairline, and limited neck movement.
Understanding Klippel-Feil syndrome
It has three classic features: a short neck, a low hairline at the back of the head, and limited neck movement. Fewer than half of people have all three, and some have no symptoms. Fused bones can cause headaches, muscle pain, and a tilted or turned head (torticollis). The neck can become unstable, which can raise the risk of spinal cord damage, and some people have narrowing of the spinal canal.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Fused neck bones
- Short neck
- Low hairline at the back of the neck
- Limited neck movement
- Neck pain and headaches
- Curved spine (scoliosis)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include bone and joint specialists, digestive system specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Digestive system specialists (gastroenterologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Child Neurology Foundation
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in genes (also called variants) cause this condition. It lists autosomal dominant and autosomal recessive inheritance.
Also known as: cervical c2/c3 vertebral fusion; cervical fusion syndrome; cervical vertebral fusion; cervical vertebral fusion autosomal dominant; cervical vertebral fusion autosomal recessive; cervical vertebral fusion syndrome
Patient organizations
- Child Neurology FoundationKlippel-Feil syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Klippel-Feil syndrome.
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