Klippel Feil syndrome
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Age of Onset
Autosomal dominant ?A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease
Autosomal recessive ?Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype
X-linked dominant ?X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked recessive ?Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder
Mitochondrial or multigenic ?Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor ?Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Other Names (AKA)
Cervical vertebral fusion
Congenital and Genetic Diseases; Musculoskeletal Diseases
- Fusion of 2 or more spinal bones in the neck (cervical vertebrae).
- Low hairline at the back of the head
- Short neck
- Limited neck range of motion
Scoliosis(curvature of the spine)
- Sprengel deformity (abnormality of the shoulder blade)
- Central nervous system abnormalities (including Chiari malformation, spina bifida, or syringomyelia), and/or neurological symptoms
- Other skeletal abnormalities (including those of the ribs, limbs and/or fingers)
People with KFS may have headaches, muscle and nerve pain, or other neurological problems. There is an increased risk for narrowing of the spine (spinal stenosis) and serious spinal injury after mild trauma. Some people with KFS have few or no symptoms.
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
|Medical Terms||Other Names||
|80%-99% of people have these symptoms|
|Abnormal vertebral segmentation and fusion||0005640|
|Cervical C2/C3 vertebral fusion||0004602|
Asymmetry of face
[ more ]
|Limited neck range of motion||0000466|
|Low posterior hairline||
Low hairline at back of neck
Decreased length of neck
|30%-79% of people have these symptoms|
|Abnormal shoulder morphology||
Abnormality of the shoulder
|Abnormality of the ribs||
[ more ]
High shoulder blade
|5%-29% of people have these symptoms|
|Abnormal cranial nerve morphology||0001291|
|Abnormal sacrum morphology||0005107|
|Abnormality of limb bone morphology||
Abnormal shape of limb bone
Arm and/or leg bone differences
[ more ]
Cleft roof of mouth
Abnormality of cognition
[ more ]
Abnormal anus position
Paralysis or weakness of one side of body
|Posterior fossa cyst||0007291|
[ more ]
|Ventricular septal defect||
Hole in heart wall separating two lower heart chambers
|1%-4% of people have these symptoms|
|Abnormality of cardiovascular system morphology||0030680|
Hand mirror movements
Mirror hand movements
[ more ]
|Mixed hearing impairment||
Hearing loss, mixed
Mixed hearing loss
[ more ]
|Unilateral renal agenesis||
Absent kidney on one side
Missing one kidney
[ more ]
|Percent of people who have these symptoms is not available through HPO|
|Abnormality of the pinna||
Abnormally shaped ears
[ more ]
|Cleft upper lip||
|Conductive hearing impairment||
Conductive hearing loss
[ more ]
|Fused cervical vertebrae||
|Sensorineural hearing impairment||0000407|
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
- Orthopedic surgeon
- Pain management specialist
- Project OrphanAnesthesia is a project whose aim is to create peer-reviewed, readily accessible guidelines for patients with rare diseases and for the anesthesiologists caring for them. The project is a collaborative effort of the German Society of Anesthesiology and Intensive Care, Orphanet, the European Society of Pediatric Anesthesia, anesthetists and rare disease experts with the aim to contribute to patient safety.
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
Differential diagnosis should include a surgical history of spinal fusion, ankylosing spondylitis, juvenile rheumatoid arthritis, fibrodysplasia ossificans progressiva (see these terms), and active or "burned out'' osteomyelitis.
Visit the Orphanet disease page for more information.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
- Visit the Klippel-Feil Syndrome Freedom group on Facebook.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
- Genetics Home Reference (GHR) contains information on Klippel Feil syndrome. This website is maintained by the National Library of Medicine.
- The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
Klippel Feil syndrome, Autosomal dominant
Klippel Feil syndrome, Autosomal recessive
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Klippel Feil syndrome. Click on the link to view a sample search on this topic.
- Frikha R. Klippel-Feil syndrome: a review of the literature. Clin Dysmorphol. 2020; 29(1):35-37. https://pubmed.ncbi.nlm.nih.gov/31577545.
- Menger RP, Notarianni C. Klippel Feil Syndrome. In: StatPearls. Treasure Island (FL): StatPearls Publishing. 2020; https://pubmed.ncbi.nlm.nih.gov/29630209.
- Zhou PL, Poorman GW, Wang C, Pierce KE, Bortz CA et al.. Klippel-Feil: A constellation of diagnoses, a contemporary presentation, and recent national trends.. J Craniovertebr Junction Spine. 2019; 10(3):133-138. https://pubmed.ncbi.nlm.nih.gov/31772424.
- Klippel-Feil Syndrome. National Organization for Rare Disorders (NORD). Updated 2019; https://rarediseases.org/rare-diseases/klippel-feil-syndrome/.
- Gruber J, Saleh A, Bakhsh W, Rubery PT, Mesfin A. The Prevalence of Klippel-Feil Syndrome: A Computed Tomography-Based Analysis of 2,917 Patients. Spine Deform. 2018; 6(4):448-453. https://pubmed.ncbi.nlm.nih.gov/29886918.