Skip to content. What is Klippel-Feil syndrome? Klippel-Feil syndrome is a rare bone disorder distinguished by the abnormal fusion of two or more bones in the neck. Most people with Klippel-Feil syndrome will only have one or two of the distinctive characteristics; fewer than half have all three. Klippel-Feil syndrome is estimated to occur in 1 out of every 40, births.
Prognosis can be related to the Samartzis classification system. KFS may occur as an isolated abnormality or in association with certain Adults with klippel feil syndrome. Differential Diagnosis Healing osteomyelitis or discitis. A strict neurologic exam including cranial nerves, sensory, motor, and rectal tone for acute neurologic changes is mandatory. Just skip this klippeo for now. Yang J, He L. Additionally, physicians may recommend your child see several different specialists because other body systems may be affected by Klippel-Feil syndrome.
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In: Kliegman RM et al. Management depends on the features and severity in each person, and can be life-long. In these instances, affected individuals have the signs and symptoms of both Klippel-Feil syndrome and the additional disorder. People with minimal bone involvement often have fewer problems compared to individuals with several vertebrae affected. Some researchers suggest that Wildervanck syndrome may result from the interaction of several different genes polygenic. Shen FH, Samartzis D. This article incorporates information in Adults with klippel feil syndrome public domain prepared by the National Institute of Neurological Disorders and Stroke. The specific symptoms associated with KFS vary greatly from one person to another. The disorder is characterized by KFS; hearing impairment Wade twin chapels to failed transmission of sound impulses from the inner ear to the brain sensorineural deafness ; and a condition known as Duane syndrome in which there are abnormalities of certain eye ocular movements. Rarely, spinal nerve abnormalities may cause abnormal sensations or involuntary movements in people with Klippel-Feil syndrome.
It is diagnosed when two or more of the seven vertebrae in the neck are fused together congenitally, or from birth.
- People from Klippel-Feil syndrome tend to have a short neck and their neck motion is significantly restricted.
- Klippel-Feil syndrome is a bone disorder characterized by the abnormal joining fusion of two or more spinal bones in the neck cervical vertebrae.
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- These studies contribute to a greater understanding of birth defects such as Klippel-Feil Syndrome and open promising new avenues for treatment.
- This table lists symptoms that people with this disease may have.
- Klippel Feil syndrome is a rare congenital present at birth bone disorder characterized by the fusion of two or more spinal bones in the neck cervical vertebrae.
Klippel-Feil syndrome KFS symptoms can range from minor discomfort to severe pain and limited range of motion in the neck. Other conditions may occur with KFS, and the symptoms associated with these other conditions can also run the spectrum in terms of severity and whether or not they impact quality of life. KFS symptoms may or may not be apparent at birth or during childhood. However, KFS symptoms typically worsen with age and may become more apparent later in life. See Cervical Radiculopathy Symptoms.
Watch: Myelopathy Video. Klippel-Feil typically presents with other abnormalities or is secondary to another disorder. Some examples include:. See Scoliosis: Symptoms, Treatment and Surgery. See Cervical Osteoarthritis Neck Arthritis. Neck Pain Symptoms.
What Is Cervical Radiculopathy? Cervical Osteoarthritis Neck Arthritis. Cervical Osteophytes: Bone Spurs in the Neck. Scoliosis: Symptoms, Treatment and Surgery. Peer Reviewed. Editor's Top Picks. Health Information Sponsored.
Klippel-Feil Syndrome. Teaching Resources. This table lists symptoms that people with this disease may have. Kliegman RM et al. Other features may include joint pain; anomalies of the head and face, skeleton, sex organs, muscles, brain and spinal cord, arms, legs, and fingers; and difficulties hearing. While the protein produced from the GDF3 gene is known to be involved in bone development, its exact role is unclear. The specific symptoms associated with KFS vary greatly from one person to another.
Adults with klippel feil syndrome. What is Klippel-Feil syndrome?
The protein GDF6 plays in the role of the vertebrae formation. As of the moment, there is still a vague uncertainty of why a shortage in such family of proteins will lead to the incomplete vertebrae separation.
Also, this kind of syndrome is known to be an inherited genetic syndrome disorder which is considered to be either autosomal recessive trait or autosomal dominant trait. These persons etiology is unknown. Still there are some studies that suggest that the causes of maternal alcoholism that leads to fetal alcohol syndrome that may result to having such syndrome. Klippel Feil Syndrome is diagnosed by the physician through doing such examinations:.
The extent and type of the abnormality or deformity is the basis of the treatment for Klippel Feil Syndrome. However, there are others who have the severe kind of the syndrome which needs to be treatment through:. Prescription of the medical therapy is based on the abnormalities that the person possesses.
If you have auditory abnormalities, you need to consult the audiologist. Or for instance, persons with cardiovascular abnormalities will need the help of the cardiologist expert for their medical therapy treatment.
This is needed in the improvement of the bodily strength and mobility. It is required for this kind of syndrome. This is a progressive kind of syndrome deformity because of the abnormality fusion, surgical procedure is needed. This is kind of treatment will be needed when a person have neurologic discrepancy and pain that is relentless. According to the statistics gathered, persons having Klippel Feil syndrome will usually live for a maximum of 25 years of age.
Yet, some of the persons with this kind of syndrome have normal prognosis or life span. The prognosis is considered good if there is only mild form of this kind of syndrome. Through medical attention done carefully or through early medical seeking behavior, the prognosis is considered good. Some of the persons having Klippel Feil syndrome may not manifest symptoms mentioned and may be further undiagnosed with having such syndrome disorder.
While some, may have injury in the spinal cord after having trauma that is minor because of the high risk of the patterns of fusion in the cervical area.
Rarely, structural brain abnormalities or a type of birth defect that occurs during the development of the brain and spinal cord neural tube defect can occur in people with Klippel-Feil syndrome. In some cases, Klippel-Feil syndrome occurs as a feature of another disorder or syndrome, such as Wildervanck syndrome or hemifacial microsomia. In these instances, affected individuals have the signs and symptoms of both Klippel-Feil syndrome and the additional disorder.
Klippel-Feil syndrome is estimated to occur in 1 in 40, to 42, newborns worldwide. Females seem to be affected slightly more often than males. These genes are involved in proper bone development.
The protein produced from the GDF6 gene is necessary for the formation of bones and joints, including those in the spine. While the protein produced from the GDF3 gene is known to be involved in bone development, its exact role is unclear.
The protein produced from the MEOX1 gene, called homeobox protein MOX-1, regulates the process that begins separating vertebrae from one another during early development.
Although the GDF6, GDF3, and homeobox protein MOX-1 proteins are involved in bone development, particularly formation of vertebrae, it is unclear how a shortage of one of these proteins leads to incomplete separation of the cervical vertebrae in people with Klippel-Feil syndrome.
When Klippel-Feil syndrome is a feature of another disorder, it is caused by mutations in genes involved in the other disorder. When Klippel-Feil syndrome is caused by mutations in the GDF6 or GDF3 genes, it is inherited in an autosomal dominant pattern , which means one copy of the altered gene in each cell is sufficient to cause the disorder.
When caused by mutations in the MEOX1 gene, Klippel-Feil syndrome is inherited in an autosomal recessive pattern , which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. As a feature of another disorder, Klippel-Feil syndrome is inherited in whatever pattern the other disorder follows.
BMC Genet. Congenital anomalies of the cervical spine. Neurosurg Clin N Am. Congenital variations of the upper cervical spine and their importance in preoperative diagnosis. A case report and a review of the literature. Eur J Orthop Surg Traumatol. Epub Apr 6. Am J Hum Genet. Epub Jan 3. The extent of fusion within the congenital Klippel-Feil segment.
Adult-onset Klippel-Feil syndrome with inaugural neurologic symptoms: two case reports.
Skip to content. What is Klippel-Feil syndrome? Klippel-Feil syndrome is a rare bone disorder distinguished by the abnormal fusion of two or more bones in the neck.
Most people with Klippel-Feil syndrome will only have one or two of the distinctive characteristics; fewer than half have all three. Klippel-Feil syndrome is estimated to occur in 1 out of every 40, births. The condition is present at birth, but it may go undetected for years if the symptoms are slight. Klippel-Feil syndrome can occur with other syndromes such as fetal alcohol syndrome, Goldenhar syndrome, and abnormalities of the arms or legs.
Diagnostic evaluation begins with a thorough medical history and physical examination of your child. Children with Klippel-Feil syndrome may have other health issues too, such as kidney, heart or lung problems.
Additional tests that may be needed include cardiac evaluation and hearing tests. There is no cure for Klippel-Feil syndrome. Treatment is ordered when certain issues — such as spinal curvatures, muscle weaknesses or heart problems — occur and need to be treated. A team of expert clinicians — including leading surgeons and physicians, pediatric nurses, physical and occupational therapists, psychologists and other specialists — will partner with you in the care of your child.
Many children with Klippel-Feil syndrome are also diagnosed with a variety of orthopaedic conditions including bone fusion, scoliosis and hand anomalies. In some cases, these conditions are present at birth and can be treated when the child is young. Follow-up examinations should be done to follow growth and changes in the deformities. For example, a child with webbed fingers or cleft palate will likely need surgery.
Orthopaedic specialists from our Hand and Arm Disorders Program or plastic surgeons from the Cleft Lip and Cleft Palate Program will work with your family to create an individualized care plan for your child.
In other cases, the complications from Klippel-Feil syndrome may only become evident — or problematic —as your child grows. This is often true for spinal deformities such as scoliosis or neck instability. For example, if your child has scoliosis, our team of spine specialists will consider the severity of the spinal curve, where it occurs in the spine, and your child's age and stage of growth, before determining the best course of action. Your child with Klippel-Feil syndrome should continue to be monitored by an orthopaedic physician into adulthood.
If your child had spine surgery, he or she will need to see the orthopaedic surgeon about one to two weeks after surgery, then again at three and six months post-surgery. After that, annual monitoring by trained clinicians is strongly encouraged to ensure any problems are spotted and treated as soon as possible. Additionally, physicians may recommend your child see several different specialists because other body systems may be affected by Klippel-Feil syndrome. During follow-up visits, X-rays and other diagnostic testing may be done.
The goal of continued monitoring is to help spot any irregularities in growth or development and to address health issues as they develop. Our team is committed to partnering with parents and referring physicians to provide the most current, comprehensive and specialized care possible for your child.
The prognosis for most children with Klippel-Feil syndrome is good if the condition is diagnosed early in life. Our referral nurse navigator can give your family timely access to world-renowned pediatric orthopaedic surgeons in every specialty.
Klippel-Feil Syndrome. Appointments and Referrals. Request an Appointment. Contact Us Online. Magnetic resonance imaging MRI , which uses a combination of large magnets, radiofrequencies and a computer to produce detailed images of organs and structures within the body. Computed tomography CT scan , which uses a combination of X-rays and computer technology to produce cross-sectional images "slices" of the body.
EOS imaging , an imaging technology that creates 3-dimensional models from two planar images. Unlike a CT scan, EOS images are taken while the child is in an upright or standing position, enabling improved diagnosis due to weight-bearing positioning. Reviewed by: Denis S. Next Steps Contact Us. Why Choose the Spine Program.