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]

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

Klippel-Feil syndrome presenting with bilateral thoracic outlet syndrome. Spine. 2004;29: e189-e192. 12. McGaughran J. Klippel-Feil anomaly and neural tube defects. Am J Med Genet A. 2004;127:327-328. 13. [contemporarypediatrics.com]

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

By definition, Klippel-Feil is a heterogeneous presentation. [ncbi.nlm.nih.gov]

• Weakness

  You have new muscle weakness. This could be a sign of something more serious related to your spine or spinal cord. You have abnormalities in other organs. [my.clevelandclinic.org]

  Patients with persistent neurological pain, myelopathy, new-onset muscle group weakness, and documented spinal instability are operative candidates. Spinal deformities and instability drive surgical decision making. [physio-pedia.com]

  Treatment is ordered when certain issues — such as spinal curvatures, muscle weaknesses or heart problems — occur and need to be treated. At Children’s Hospital of Philadelphia, we practice collaborative, family-centered care. [chop.edu]

  Femur Strength Index Result WEAK (X-12.5) STRONG (12.6-X) INDEX 8 PILASTRIC FEMUR INDEX NULL (X-99) WEAK (100–109) MEDIUM (110–119) STRONG (120-X) INDEX 102 TOTAL ANALYSIS WEAK Publisher’s Note: MDPI stays neutral with regard to jurisdictional claims [mdpi.com]

  This can cause pain, stiffness, weakness, and numbness in your limbs. Associated conditions KFS is associated with several co-occurring conditions. [healthline.com]

• Developmental Disorder

  Kim, Park, Lee, Nam, Park, and Kim: Two Cases of Klippel-Feil Syndrome with Cervical Myelopathy Successfully Treated by Simple Decompression without Fixation Abstract Klippel-Feil syndrome (KFS) is a congenital developmental disorder of cervical spine [e-neurospine.org]

  The CIBA Collection of Medical Illustrations—Muscoloskeletal System: Developmental Disorders, Tumors, Rheumatic Diseases and Joint Replacement; Part II A; Ciba-Geigy: Toms River, NJ, USA, 2002; Volume 8. [mdpi.com]

• Surgical Procedure

  Several types of surgical procedures are available, but the outcomes are unpredictable. [ncbi.nlm.nih.gov]

  The surgical procedures performed will depend upon the severity of the anatomical abnormalities, their associated symptoms, and other factors. [rarediseases.org]

• Camping

  These soldiers were most likely, given the historical evidence, deported, and then, died in the Torre Tresca prison camp (Bari, Apulia) during World War II [11]. 3. [mdpi.com]

• Multiple Congenital Anomalies

  Conclusion Klippel-Feil Syndrome is associated with multiple congenital anomalies, therefore hearing screening is mandatory and inner ear imaging is necessary if the test is negative to rule out inner ear malformation including Mandoni malformation. [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]

  In the present case, we have found chiari malformation, meningiocele, sprengel deformity and there were no evidence of renal disease and congenital heart disease. [fortunejournals.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]

• Hearing Problem

  Other problems include: Hearing problems or deafness. Cleft palate or abnormally shaped palate. Abnormalities in reproductive organs, and urinary tract, heart and lung, rib deformities or arm and leg deformities. [my.clevelandclinic.org]

  problems (audiologists); eye specialists (ophthalmologists); and/or other health care professionals. [rarediseases.org]

  Often, this syndrome is accompanied by other serious anomalies, such as atlanto–occipital fusion, basilar impression, spina bifida occulta, scoliosis, eight cervical vertebrae, Sprengel’s deformity, hearing problems, deafness or deaf-mutism, hypodontia [mdpi.com]

• Muscle Weakness

  Treatment is ordered when certain issues — such as spinal curvatures, muscle weaknesses or heart problems — occur and need to be treated. At Children’s Hospital of Philadelphia, we practice collaborative, family-centered care. [chop.edu]

  You have new muscle weakness. This could be a sign of something more serious related to your spine or spinal cord. You have abnormalities in other organs. [my.clevelandclinic.org]

  The findings indicate muscle weakness in the thighs and confirm a reduced biomechanical activity of the individual during his life (Table 1). [mdpi.com]

• Myopathy

  A novel syndrome of Klippel-Feil anomaly, myopathy, and characteristic facies is linked to a null mutation in MYO18B. J. Med. Genet. 2015, 52, 400–404. [mdpi.com]

  Klippel-Feil syndrome 4 results from homozygous mutations in the MYO18B gene and is associated with nemaline myopathy and facial dysmorphism. [jamanetwork.com]

• 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]

• Foot Deformity

  A foot deformity from a Romano-British cemetery at Gloucester, England, and the current evidence for Talipes in paleopathology. Int. J. Osteoarchaeol. 2004, 14, 389–403. [Google Scholar] [CrossRef] Scotti, G. Il Bosco Dopo il Mare. [mdpi.com]

• Cranial Asymmetry

  A second, more specific analysis allowed all the anomalies associated with this pathology to be examined: bilateral and symmetrical occipital condylar hypoplasia, cranial asymmetry, deviation of the nasal septum, spina bifida occulta type III and mild [mdpi.com]

• Skin Disease

  If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. [rarediseases.org]

• 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]

  Studies have suggested that this may be an inherited condition in some patients and have found autosomal dominant inheritance in those with C2-3 fusion [3]. [fortunejournals.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]

• Short Neck

  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]

  Three major features result from this vertebral fusion: a short neck, the resulting appearance of a low hairline at the back of the head, and a limited range of motion in the neck. [ncbi.nlm.nih.gov]

  Figure 1: Clinical photograph showing short neck. Figure 2: Clinical photograph showing low posterior hairline and 2 × 2 cm mass in the back of the neck. [fortunejournals.com]

  If you have KFS, you’ll have been born with at least two spinal bones in your neck fused together. This can result in a short neck, low hairline, limited mobility, headaches, and back pain. But you may not have every symptom. [healthline.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]

• Radiculopathy

  Samartzis et al. indicated that surgery is recommended if myelopathy or radiculopathy is refractory to conservative management5). [e-neurospine.org]

  Type III with multiple contiguously fused segments and type II patients are associated with a higher incidence and risk of developing radiculopathy or myelopathy. [now.aapmr.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]

  Types 2 and 3 are associated with more limited mobility, spinal cord compression (myelopathy), and pinching of the spinal cord’s root nerve in your lower back (radiculopathy). This can cause pain, stiffness, weakness, and numbness in your limbs. [healthline.com]

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

• Paresis

  Following that fall, he developed transient numbness and paresis of the lower limbs. [bmcprimcare.biomedcentral.com]

[…] 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]

[…] devices where necessary.[32] Differential Diagnosis 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 [ncbi.nlm.nih.gov]

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]

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]

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]

[…] pain Treatment for stenosis Genetic counselling If there are treatment options available to you, they will be discussed in detail so that you understand what options are out there, how they could benefit you and what risks they carry. [medic8.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]

What is the prognosis? The prognosis varies according to the type of KFS and the severity of symptoms. [medic8.com]

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]

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;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]

Patients can be polysyndromic in their presentation, as well.[1][2][3][4] Etiology The etiology of Klippel-Feil syndrome is not well known. [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]

Classification of congenitally fused cervical patterns in Klippel-Feil patients: epidemiology and role in the development of cervical spine-related symptoms. Spine 31 (2006): 798-804. Menger RP, Notarianni C. Klippel Feil Syndrome. [fortunejournals.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 Oct 01;31(21):E798-804. [PubMed: 17023841] 32. [ncbi.nlm.nih.gov]

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]

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]

[…] incidence at 0.71%.[15] It is important to recognize that asymptomatic pediatric patients, who do not undergo cervical imaging and do not present with an obvious physical deformity, are likely to graduate into adulthood unaware of their condition.[16][17] Pathophysiology [ncbi.nlm.nih.gov]

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]