Klippel-Feil syndrome is a bone condition characterised by the abnormal joining (fusion) of two or more spinal bones in the neck. This happens during early stages of pregnancy when tissues in the developing baby do not separate properly to form individual neck bones.

This condition is present from birth (congenital), however in some individuals, it may go unnoticed until later in life when symptoms become more apparent.

Common symptoms of Klippel-Feil syndrome include a short neck, limited range of motion of the neck, headaches, and neck pain. In some individuals, this condition can also affect other parts of the body such as the spine, ribs, shoulder blade, facial features, heart, kidneys, urinary system, hearing, and vision.

Klippel-Feil syndrome is slightly more common in females than males.

Below on this page is some information about this condition as well as links to useful resources for Australians living with a rare disease.

Synonyms: Fusion of cervical vertebral, congenital fused cervical segments, congenital synostosis of the cervical spine, cervical vertebral fusion, cervical fusion syndrome, Klippel-Feil anomaly, KFS, Klippel-Feil malformation, Klippel-Feil sequence.

Universal rare disease classifications provide a common language for recording, reporting and monitoring diseases. Please visit the Rare Disease Classifications page for more information about these internationally recognised classifications.

ORPHA:2345 Klippel-Feil syndrome

ICD-11: LB73.20 Klippel-Feil anomaly

Rare diseases typically display a high level of symptom complexity. There is often a wide range of symptoms and the symptoms may vary between individuals in terms of its presentation, severity, duration and impact.

Please speak to your medical team to learn more about the symptoms of this condition.

Rare diseases are often serious and progressive, exhibiting a high degree of symptom complexity, leading to significant disability. Majority of the estimated two million Australians living with a rare disease meet the Australian Government’s definition for disability (in accordance to the Australian Public Service Commission and Australian Bureau of Statistics), and many experience severe and permanent disability impacts. If you or someone you care for is experiencing disability-related impacts from a rare condition, please speak with a health or disability professional for advice. Information about relevant disability support can be found at the RARE Portal’s Disability Support Information page.

In most individuals, the cause of Klippel-Feil syndrome is not known. In some individuals, research has shown that their condition was caused by disease-causing genetic changes (variants) in certain genes that affect early bone development. These genes identified are GDF6, GDF3, and MEOX1 genes. It is suggested that a combination of genetic factors and environmental factors play a role in the development of Klippel-Feil syndrome.

If you would like to learn more about the inheritance and impact of this condition, please ask your doctor for a referral to a genetic counsellor. Genetic counsellors are qualified allied health professionals who can provide information and support regarding genetic conditions and testing. More information about genetic counselling can be found at:

• Information on Genetic Services
• The National and State Services pages underneath the ‘Genetic Counselling’ sections listed

A timely diagnosis is critical for better patient outcomes, the provision of the best possible care and treatment options, access to services and support, increased reproductive confidence and the ability to participate in clinical trials.

Please speak to your medical team to learn more about the available diagnostic pathways for this condition.

Please speak to your medical team to learn more about the possible treatment or management options for your condition. Treatment will depend on an individual’s specific condition and symptoms. It is also important to stay connected to your medical team so that you can be made aware of any upcoming clinical trial opportunities.

Healthcare professionals involved in the treatment of Klippel-Feil syndrome may include general practitioners (GP), paediatricians, neurologists, orthopaedic surgeons, neurosurgeons, physical therapists, gastroenterologists, and genetic counsellors. The need for different healthcare professionals may change over a person’s lifetime and extend beyond those listed here.

Clinical care for rare diseases often involves a multidisciplinary team of medical, care and support professionals. Please note that the information provided here is as a guide and that RVA does not necessarily monitor or endorse specific clinics or health experts.

For many rare diseases, palliative care services may be relevant and useful. Palliative care services are available for people (adults, children and their families) living with a life-limiting illness and is not only for end-of-life care. It can also help at any stage of illness from diagnosis onwards, and will look different for different people. Palliative care services provide assistance, support, resources and tools to help people manage their illness and the symptoms, ease pain, and improve comfort and quality of life. If this is relevant to you and you wish to find out more information about palliative care and how it can help you, please visit:

• Australian Institute of Health and Welfare: Palliative care Overview
• Australian Government Department of Health, Disability and Ageing: Palliative care
• Palliative Care Australia

If you know of any relevant care guidelines, please let us know via the Contribute page.

Individuals living with rare diseases may have complex medical issues and disabilities, which are not always visible. It is often useful to refer to their medical history as well as personal information such as a medical card, doctor’s letter, or if available, a rare disease passport, for relevant information.

In addition, individuals, their parents, families and carers often develop extensive expertise on their specific rare disease. It is important to recognise that they can contribute valuable knowledge about their rare condition. Rare diseases often impact individuals differently, so it’s important to consider a person’s lived experience.

If you know of any relevant emergency management guidelines or information relevant to emergency care, please let us know via the Contribute page.

There are specific considerations around participating in rare disease research, including clinical trials. It is important to be mindful of issues such as data privacy, research ethics, consent and differences in research regulations between Australia and other countries. For more information, please visit the RARE Portal’s Considerations for Participating in Health and Medical Research page.

If you are interested in finding clinical trials for your condition, please visit the following websites; however, there may not be any clinical trials available:

• Australian Clinical Trials
• ClinicalTrials.gov

It is best to discuss your interest in research, including clinical trials,  with your medical team to determine suitability and eligibility.

We are not aware of any rare disease organisations for Klippel-Feil syndrome in Australia or internationally. If you are aware of any support organisations, please let us know via the Contribute page. If you are interested in starting an Australian organisation, please see Engaged, Ethical and Effective: A Guide for Rare Disease Organisation Leaders in Australia.

Genetics Alliance Australia (GAA) and Syndromes Without A Name (SWAN) Australia may be able to provide some support for families and individuals affected by an undiagnosed or rare genetic condition for which there is no disease specific organisation in Australia.

Please note that RVA does not monitor or endorse each group/organisation’s operational governance and activities. When engaging with a group, please consider the information on the RARE Portal’s Finding Helpful Peer and Community Supports page.

Klippel-Feil syndrome vary between individuals, and each person’s experience is unique.

If you would like to share your personal story with RVA, please visit the Rare Voices Australia: Share Your Story page. RVA will consider your story for publishing on our website and inclusion on the RARE Portal.

For information on available government and social services that provide support for individuals with a rare disease, please visit the National and State Services pages.

People living with a rare disease often face unique challenges such as diagnostic delays, misdiagnoses, limited treatment options, and limited access to rare disease specialists and support. These challenges may impact people’s emotional wellbeing and quality of life. Many find it helpful to seek mental health and wellbeing support to cope with ongoing stress and uncertainty. Connecting with people who have shared experiences through a support group may also be helpful. Information about relevant mental health and wellbeing support can be found at:

• Mental Health and Wellbeing Support for Australians Living with a Rare Disease
• The National and State Services pages underneath the ‘Mental Health’ sections listed

Further information on Klippel-Feil syndrome can be found at:

• National Organization for Rare Disorders (NORD): Klippel-Feil Syndrome
• Genetic and Rare Diseases (GARD) Information Center: Klippel-Feil syndrome

GeneReviews®: Klippel Feil Syndrome

Online Mendelian Inheritance in Man, OMIM®: #118100 Klippel-Feil Syndrome 1, autosomal dominant; KFS1

Online Mendelian Inheritance in Man, OMIM®: #214300 Klippel-Feil Syndrome 2, autosomal recessive; KFS2

Online Mendelian Inheritance in Man, OMIM®: #613702 Klippel-Feil Syndrome 3, autosomal dominant; KFS3

Orphanet: Klippel-Feil syndrome

Human Phenotype Ontology (HPO): Isolated Klippel-Feil syndrome

This page has been developed by Rare Voices Australia (RVA)’s RARE Portal team. If you would like to see more information added to this page, please reach out via the Contact form. If you would like to share relevant resources for this condition, please visit the Contribute page.

If you are aware of any additional information that may benefit stakeholders with an interest in this page, or if you notice any broken links or inaccurate information, please let us know via the Contribute page.