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Klippel-Feil syndrome 3
ICD-10 Codes
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Description
Klippel-Feil Syndrome (KFS) Description
Klippel-Feil syndrome (KFS) is a condition in which you have two or more neck bones (vertebrae) fused together. KFS causes spine abnormalities and can lead to various complications, including:
- Spine Abnormalities: The fusion of vertebrae can cause the spine to become misshapen, leading to difficulties with movement and balance.
- Musculoskeletal Problems: Patients with KFS may experience musculoskeletal problems, such as muscle weakness or atrophy, due to the abnormal spinal alignment.
- Respiratory Issues: In some cases, KFS can lead to respiratory issues, including shortness of breath or difficulty breathing.
KFS is a rare congenital condition that affects approximately 1 in every 50,000 births [3][7]. The exact cause of KFS remains unknown, but it is believed to be related to the failure of normal segmentation or formation of cervical somites during fetal development [7].
Symptoms of KFS can vary widely among individuals and may include a short neck, low hairline on the back of the head, and subtle asymmetry in facial features [6]. In some cases, patients with KFS may experience neurological symptoms, such as numbness or tingling in the arms or legs.
Overall, Klippel-Feil syndrome is a complex condition that requires prompt medical attention to prevent further complications.
Additional Characteristics
- Respiratory Issues
- Spine Abnormalities
- Musculoskeletal Problems
Signs and Symptoms
Symptoms of Klippel-Feil Syndrome
Klippel-Feil syndrome (KFS) is a rare congenital disorder that affects the development of the bones in your spine. The symptoms of KFS can vary greatly from person to person, but common signs and symptoms include:
- Limited range of motion in the neck: This is one of the most common physical symptoms of KFS, where people may experience difficulty moving their head or neck.
- Abnormal kidney or reproductive organs: Some individuals with KFS may have abnormalities in their kidneys or reproductive organs, such as an ectopic ureter.
- Additional neural tube defects: KFS can also be associated with other birth defects affecting the brain, spine, or spinal cord.
According to [3], symptoms of KFS vary according to the severity and how many vertebrae are fused. The condition can range from minor discomfort to severe pain and limited range of motion in the neck.
It's worth noting that people with KFS may also experience other conditions associated with the disorder, which can impact their quality of life. [6] states that symptoms can run the spectrum in terms of severity and whether or not they impact quality of life.
Overall, the symptoms of Klippel-Feil syndrome are diverse and can vary significantly from person to person.
Additional Symptoms
- Abnormal kidney or reproductive organs
- Limited range of motion in the neck
- Additional neural tube defects
Diagnostic Tests
Diagnostic Tests for Klippel-Feil Syndrome
Klippel-Feil syndrome (KFS) can be diagnosed through a combination of clinical examination, medical history, and imaging studies. Here are some of the diagnostic tests used to confirm KFS:
- Imaging Studies: X-rays, CT scans, and MRI scans are commonly used to diagnose KFS. These tests help identify the congenital fusion of two or more cervical vertebrae in the neck [1][4].
- Genetic Testing: Genetic testing can also be performed to confirm a diagnosis of KFS. A blood or saliva test can detect genetic mutations associated with the condition [5].
- Physical Examination and Medical History: A thorough physical examination and medical history are essential in diagnosing KFS. Healthcare providers will look for signs of congenital fusion, such as limited neck mobility or abnormal spinal curvature [2][8].
It's worth noting that diagnosis is often made at birth through observation, with tests performed later to confirm the condition [3]. Early diagnosis and testing can help identify associated abnormalities and provide a more accurate prognosis.
References:
[1] X-rays are helpful in diagnosing Klippel-Feil syndrome. [2] Diagnosis and Tests A healthcare provider makes the diagnosis of Klippel-Feil syndrome (KFS) based on your symptoms, a clinical exam and imaging studies. [3] Jul 19, 2024 — Doctors usually diagnose Klippel-Feil syndrome at or near birth through observation. Tests may be performed to learn if the disorder is mild ... [4] May 11, 2023 — Plain radiography is the basis for the diagnosis of KFS. Initial studies include anteroposterior (AP) and lateral views of the cervical spine (... [5] This includes family history and a complete physical exam. Tests that may help confirm the diagnosis include: Genetic testing. A blood or saliva test can ... [8] Jan 16, 2024 — Diagnosis is made from physical examination, medical history and imaging findings including congenital fusion of 2 or more cervical vertebrae.
Additional Diagnostic Tests
- Imaging Studies
- Genetic Testing
- Physical Examination and Medical History
Treatment
Medications Used in Treating Klippel-Feil Syndrome
According to various sources, medications play a crucial role in managing the symptoms and pain associated with Klippel-Feil syndrome (KFS). Here are some common medications used in treating KFS:
- Non-Steroidal Anti-Inflammatory Drugs (NSAIDs): These medications, such as ibuprofen or naproxen, can help reduce pain and inflammation [6].
- Pain Medication: Other pain-relieving medications may be prescribed to manage chronic pain associated with KFS [1].
It's essential to note that while these medications can provide relief from symptoms, they do not cure the condition. Treatment plans for KFS often involve a combination of medications, physical therapy, and other supportive care measures.
References:
[1] Sep 6, 2024 - If you have mild Klippel-Feil treatment, you might need a cervical collar, a brace, non-steroidal anti-inflammatory drugs, and pain medication. [6] There is no cure for KFS. Therefore, therapies are aimed at symptomatic and supportive care. Non-steroidal anti-inflammatory drugs (NSAIDs). NSAIDs are ...
Recommended Medications
- Pain Medication
- non-steroidal anti-inflammatory drug
💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.
Differential Diagnosis
Differential Diagnosis of Klippel-Feil Syndrome
Klippel-Feil syndrome (KFS) is a rare bone disorder distinguished by the abnormal fusion of two or more bones in the neck. Children with the disorder may have a variety of symptoms, and it's essential to consider differential diagnoses when evaluating patients with KFS.
Possible Differential Diagnoses:
- Healing osteomyelitis or discitis: Inflammation of the bone or disc can cause similar symptoms to KFS.
- Previous fusion without instrumentation: A previous surgical procedure may have caused the abnormal fusion of bones in the neck.
- Juvenile idiopathic arthritis: This condition can cause joint pain and inflammation, which may be mistaken for KFS.
- Juvenile rheumatoid arthritis: Another type of arthritis that can cause symptoms similar to KFS.
Other Conditions to Consider:
- Ankylosing spondylitis: A type of arthritis that affects the spine and can cause fusion of vertebrae.
- Chronic discitis: Inflammation of the intervertebral discs, which can cause pain and stiffness in the neck.
- Surgical fusion: Previous surgical procedures may have caused abnormal fusion of bones in the neck.
References:
- [3] Klippel-Feil syndrome is a rare bone disorder distinguished by the abnormal fusion of two or more bones in the neck. Children with the disorder may have a ...
- [4] Differential Diagnosis[edit | edit source] · Healing osteomyelitis or discitis · Previous fusion without instrumentation · Juvenile idiopathic arthritis · Juvenile ...
- [6] by GP Georgiev · 2019 · Cited by 17 — Differential diagnosis of Klippel-Feil Syndrome · a) Ankylosing spondylitis · b) Chronic discitis · c) Surgical fusion · d) Juvenile idiopathic ...
Additional Differential Diagnoses
- Healing osteomyelitis or discitis
- Previous fusion without instrumentation
- Juvenile idiopathic arthritis
- Chronic discitis
- Surgical fusion
- ankylosing spondylitis 1
- juvenile rheumatoid arthritis
Additional Information
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It is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare provider with questions about your medical condition.