Radiographs recommended views AP, lateral, and odontoid views findings fusion may be craniocervical (occiput to C2), subaxial, or both basilar invagination is seen on lateral view defined as dens elevation above McRae's line atlantoaxial instability is present [orthobullets.com]

It can co-present with fetal alcohol syndrome, Goldenhar syndrome, as well as Sprengel deformity[1]. [physio-pedia.com]

Associated dextroscoliosis is present. (7e) The butterfly vertebra is manifested by a sagittal cleft on the axial image (arrow). 8 Figure 8: 67 year-old woman with KFS presenting with neck pain and hand numbness. [radsource.us]

Patients may present with radiculopathy, myelopathy or quadriplegia caused by spondylolysis or instability of vertebrae adjacent to the fused segment [1]. [eurorad.org]

[…] one to determine the pathologies present and a radiographic one to diagnose and confirm the pathology. [mdpi.com]

• Inflammation

  Your provider may order medications to relieve pain and inflammation. Surgery You’re more likely to need surgery if: You have a problem with your nervous system including your brain, spinal cord and nerves. You have a deformed or unstable spine. [my.clevelandclinic.org]

• Short Stature

  Baby was of short stature (42 cm) with a short and webbed neck. A low hair line was noted. Scapulae were higher than normal and no dysmorphic features. [panafrican-med-journal.com]

• Heart Disease

  Echocardiography is indicated when congenital heart disease is suspected. MANAGEMENT Treatment is mainly symptomatic. Affected patients should avoid contact sports and any exercise that might exacerbate instability of the cervical spine. [contemporarypediatrics.com]

  (aplasia in 33%) auditory issues (deafness in 30%) congenital heart disease/cardiovascular (15-30%) brainstem abnormalities/basilar invagination congenital cervical stenosis MRI to rule out intraspinal cord abnormalities atlantoaxial instability (~50% [orthobullets.com]

  These include: kidney disease hearing issues congenital heart disease brainstem abnormalities congenital cervical stenosis atlantoaxial instability The severity of KFS symptoms can vary. [healthline.com]

  Auditory anomalies and congenital heart diseases are also commonly seen. The visceral findings seen in our patient were atretic occipital cephaloceles, compressive myelopathy, and Dandy-Walker spectrum. [ejrnm.springeropen.com]

  Other reported anomalies frequently associated with KFS are scoliosis (60%), renal anomalies (35%), deafness (30%), congenital heart disease (14%), cranial and facial asymmetry (13%), and cleft palate (10%)15). [e-neurospine.org]

• Abnormal Eye Movement

  Abnormal eye, ear and spine development (Goldenhar syndrome). Abnormal shoulder blade development (Sprengel deformity). Abnormal eye movement (Duane syndrome). Absence of one or both kidneys (renal agenesis). [my.clevelandclinic.org]

• Back Pain

  This can result in a short neck, low hairline, limited mobility, headaches, and back pain. But you may not have every symptom. KFS can happen on its own or alongside other genetic conditions. [healthline.com]

  upper extremity paresthesias and low back pain. [radsource.us]

• Leg Pain

  She had mild paraparesis (grade IV) with spasticity in the legs and showed an unstable gait. Pain and temperature sensation was normal, but proprioception was decreased in the legs bilaterally. [e-neurospine.org]

  […] and bilateral arm numbness, low back and left leg pain and bilateral lower extremity paresthesias. (11a) Sagittal T2-weighted MR image through the cervical and upper thoracic spine. [radsource.us]

• Leg Weakness

  Associated findings may include the presence of a tuft of hair or dimple over the underlying abnormality and, in some cases, leg weakness, an inability to control urination (urinary incontinence), or other findings. [rarediseases.org]

• Hearing Impairment

  Approximately 25 to 50 percent of individuals with KFS also have hearing impairment. [rarediseases.org]

  These include: kidney disease hearing issues congenital heart disease brainstem abnormalities congenital cervical stenosis atlantoaxial instability The severity of KFS symptoms can vary. [healthline.com]

• Suggestibility

  Diagnosis can be suggested by classical findings described as a triad of restricted neck movements, short neck, and low posterior hairline; however, complete triad is seen in only about 50% of the patients [3]. [ejrnm.springeropen.com]

  […] found a low incidence of inheritance. [4] Two small studies suggested that mutations of the MEOX1 gene, which codes for mesenchyme homeobox 1, might cause a recessive subtype of the syndrome. [14, 15] A report by Karaca et al suggested that a homozygous [emedicine.medscape.com]

  QID: 3540 Type & Select Correct Answer Type in at least one full word to see suggestions list Klippel-Feil syndrome with no participation in contact sports Down's syndrome with no participation in contact sports Holt-Oram syndrome with no participation [orthobullets.com]

  However, recent studies utilizing cervical computed tomography scans reported that the prevalence of KFS was 0.6% to 1.2%, suggesting that a large number of asymptomatic patients may not be diagnosed, and the actual prevalence of KFS may be higher than [now.aapmr.org]

  Some cases of KFS have been reported that seem to suggest autosomal recessive inheritance. Recessive genetic disorders occur when an individual inherits the same abnormal gene for the same trait from each parent. [rarediseases.org]

• Short Neck

  She had the typical triad of KFS, including very short neck, low occipital hairline, and reduced bilateral neck movements. Umbilical cord had two arteries and one vein. Anal opening was patulous. [ncbi.nlm.nih.gov]

  The clinical triad of low posterior hairline, short neck, and limited range of neck motion in a patient with fused multiple cervical vertebrae isdiagnostic of Klippel-Feil syndrome. [contemporarypediatrics.com]

  This condition leads to a characteristic appearance of a short neck, low hairline, facial asymmetry, and limited neck mobility. The anomalies can lead to chronic headaches, a limited range of neck motion, and neck muscle pain. [physio-pedia.com]

  Some common signs may include a visibly short neck and low hairline behind the head. 3 Classic Signs of KFS In most cases, people with KFS have at least 1 of the following 3 signs: Visibly short neck Low hairline behind the head Reduced neck mobility [spine-health.com]

  Diagnosis can be suggested by classical findings described as a triad of restricted neck movements, short neck, and low posterior hairline; however, complete triad is seen in only about 50% of the patients [3]. [ejrnm.springeropen.com]

• Neck Stiffness

  Typical age of onset of spine related neurological symptoms is between 10 and 11 years of age. 14 Type I patients with a single fused segment have predominantly axial symptoms of neck/headache, neck pain, and neck stiffness. [now.aapmr.org]

The child was diagnosed as a sporadic case of KFS type 2 with fusion of cervical as well as thoracic vertebrae with perinatal asphyxia and was treated symptomatically and referred her to higher centre for further workup. [ncbi.nlm.nih.gov]

[…] syndrome.[1] Differential Diagnosis[edit | edit source] Healing osteomyelitis or discitis Previous fusion without instrumentation Juvenile idiopathic arthritis Juvenile rheumatoid arthritis can present with similar cervical spine anomalies, but a thorough workup [physio-pedia.com]

The challenge to the clinician is to recognize the associated anomalies that can occur with this syndrome and to perform the appropriate workup for diagnosis. [1] Anatomy Auerbach et al studied spinal cord dimensions in children with KFS. [7] They reviewed [emedicine.medscape.com]

Management and Treatment How is Klippel-Feil syndrome (KFS) treated? Your symptoms determine the treatment. Treatment might include medications and/or physical therapy. [my.clevelandclinic.org]

There’s no cure for KFS, and treatment consists of symptom management. Treatment plans depend on the severity of your symptoms, but these can include physical therapy, medications, or surgery. [healthline.com]

Treatment[edit | edit source] No definitive treatment exists. Lifestyle modifications and preventive activities include avoidance of contact sports eg rugby. Neck braces and traction may provide symptomatic relief[5]. [physio-pedia.com]

Treatment is usually observation with restriction of contact sports if the anomaly extends proximal to C2. Surgical management is indicated in the presence of myelopathy, basilar invagination, or atlantoaxial instability. [orthobullets.com]

Rehabilitation Management and Treatments Available or current treatment guidelines There are currently no consensus rehabilitation protocols for KFS. [now.aapmr.org]

Prognosis: The complications result from the vertebral fusion and include cord compression syndrome, cervical instability, and motility impairment. Management: Termination of pregnancy can be offered before viability. [thefetus.net]

Treatment and prognosis No definitive treatment exists. Lifestyle modifications and preventive activities include avoidance of contact sports such as rugby. Neck braces and traction may provide symptomatic relief. [radiopaedia.org]

This can lead to Radiculopathy and/or myelopathy.[7][8] Outlook[edit | edit source] The prognosis for most children with KFS is good if the condition is diagnosed early in life. [physio-pedia.com]

The prognosis for most children with Klippel-Feil syndrome is good if the condition is diagnosed early in life. [chop.edu]

Outlook / Prognosis What can I expect if I have Klippel-Feil syndrome (KFS)? Your outcome depends on what your disease looks like (what parts of you are affected) and any other related conditions. Each person is unique. [my.clevelandclinic.org]

Klippel-Feil Syndrome: Clinical features and current understanding of etiology. Pediatrics 2004;(424):183-190 [thefetus.net]

Patients can be polysyndromic in their presentation, as well.[1] Image 1: X-ray showing fused cervical vertebrae as seen in Klippel–Feil syndrome Etiology[edit | edit source] The etiology of Klippel-Feil syndrome is not well known. [physio-pedia.com]

Klippel–Feil syndrome: Clinical features and current understanding of etiology. Clin Orthop Relat Res. 2004:183–90. [PubMed] [Google Scholar] 3. Samartzis D, Kalluri P, Herman J, Lubicky JP, Shen FH. [ncbi.nlm.nih.gov]

Klippel-Feil syndrome: clinical features and current understanding of etiology. Clin Orthop Relat Res. 2004;424:183-190. 17. Barbosa V, Maganzini AL, Nieberg LG. Dento-skeletal implications of Klippel-Feil syndrome: a case report. [contemporarypediatrics.com]

Etiology Pathophysiology mechanism due to failure of normal segmentation or formation of cervical somites at 3-8 weeks' gestation Genetics SGM1 gene (Chr 8) Notch and Pax genes Associated conditions orthopedic conditions congenital scoliosis Sprengel's [orthobullets.com]

Classification of congenitally fused cervical patterns in Klippel-Feil patients: Epidemiology and role in the development of cervical spine-related symptoms. Spine (Phila Pa 1976) 2006;31:E798–804. [ncbi.nlm.nih.gov]

Epidemiology[edit | edit source] Klippel-Feil syndrome occurs in approximately 1 in 40,000 to 42,000 newborns worldwide with a slight preference for females. [physio-pedia.com]

Some have considered it to be a consequence of vascular disruption. [18, 19] Epidemiology The true incidence of KFS has not been established with certainty. [emedicine.medscape.com]

BMC Musculoskelet Disord 21:1–9 Article Google Scholar Samartzis D, Herman J, Lubicky JP, Shen FH (2006) Classification of congenitally fused cervical patterns in Klippel-Feil patients: epidemiology and role in the development of cervical spine-related [ejrnm.springeropen.com]

Epidemiology including risk factors and primary prevention The exact incidence and prevalence are unknown because of unavailability of population screening studies. [now.aapmr.org]

Etiology Pathophysiology mechanism due to failure of normal segmentation or formation of cervical somites at 3-8 weeks' gestation Genetics SGM1 gene (Chr 8) Notch and Pax genes Associated conditions orthopedic conditions congenital scoliosis Sprengel's [orthobullets.com]

Article CAS PubMed Google Scholar Pak CY: Medical prevention of renal stone disease. Nephron. 1999, 81: 60-65. 10.1159/000046300. Article CAS PubMed Google Scholar Pearle MS: Prevention of nephrolithiasis. [bmcprimcare.biomedcentral.com]

Genetic advances may help reveal the causes and assist in early diagnosis, prevention, and treatment in the future. [now.aapmr.org]

Lifestyle modifications and preventive activities include avoidance of contact sports eg rugby. Neck braces and traction may provide symptomatic relief[5]. [physio-pedia.com]

Lifestyle modifications and preventive activities include avoidance of contact sports such as rugby. Neck braces and traction may provide symptomatic relief. [radiopaedia.org]

Early diagnosis of KFS will be helpful to prevent neurological problems in the patients. [e-neurospine.org]