Klippel-Feil syndrome 4

Klippel-Feil syndrome-4 (KFS4) is a rare autosomal recessive disorder characterized mainly by severe hypotonia apparent from infancy [5]. This condition is primarily defined by the fusion of the cervical spine, with associated low posterior hairline and limited neck mobility being observed in about half of patients [5].

The symptoms of KFS4 can vary, but they often include:

• Severe hypotonia (low muscle tone) from infancy
• Fusion of two or more cervical vertebrae
• Low posterior hairline
• Limited neck mobility

It's worth noting that KFS4 is a rare and complex condition, and its symptoms may overlap with those of other conditions. A thorough medical evaluation and genetic testing are often necessary to confirm the diagnosis.

References: [5] Alazami et al., 2015 - This study provides a detailed description of KFS4 and its associated features. [5] Context result 5 - This search result also mentions KFS4 as an autosomal recessive disorder characterized by severe hypotonia apparent from infancy.

Klippel-Feil Syndrome (KFS) Signs and Symptoms

Klippel-Feil syndrome is a bone disorder characterized by the abnormal joining (fusion) of two or more spinal bones in the neck (cervical vertebrae). The most common signs and symptoms of KFS include:

• Short neck: A shorter-than-normal neck length, which can be noticeable from birth or may become apparent as the child grows.
• Limited mobility: Reduced range of motion in the neck, making it difficult to turn or move the head freely.
• Low hairline: A lower-than-normal hairline at the back of the head, due to the shortness of the neck.

These physical characteristics can be present from birth or may become more apparent as the child grows and develops. In some cases, additional symptoms and physical abnormalities may also occur, such as:

• Chronic headaches
• Chronic muscle pain
• Trouble seeing
• Cleft palate
• Abnormal reproductive organs or kidneys

It's essential to note that not all individuals with KFS will experience these additional symptoms, and the severity of the condition can vary widely from person to person.

References: [4] Klippel-Feil syndrome is a bone disorder characterized by the abnormal joining (fusion) of two or more spinal bones in the neck (cervical vertebrae). [6] Short neck · Appearance of a low hairline due to shortness of the neck · Lack of mobility in the neck ...

Diagnostic Tests for Klippel-Feil Syndrome

Klippel-Feil syndrome (KFS) can be diagnosed through a combination of clinical examination, imaging studies, and genetic testing. Here are the diagnostic tests used to confirm KFS:

• Imaging Studies: Plain radiography is the basis for diagnosing KFS. Initial studies include anteroposterior (AP) and lateral views of the cervical spine [4]. Magnetic resonance imaging (MRI) and computed tomography (CT) scans can also be used to evaluate for associated abnormalities and confirm the diagnosis [6].
• Genetic Testing: Genetic testing can help reveal more information about the condition, especially in cases where there is a family history of KFS. A blood or saliva test can detect genetic mutations that cause KFS [5].
• Clinical Examination: A complete physical exam, including a thorough medical history and family history, is essential for diagnosing KFS [3]. The healthcare provider will look for signs such as congenital fusion of 2 or more cervical vertebrae [8].

These diagnostic tests can help confirm the diagnosis of Klippel-Feil syndrome. However, it's essential to note that a combination of these tests may be necessary to rule out other conditions and confirm the diagnosis.

References: [3] - Diagnosis and Tests​​ A healthcare provider makes the diagnosis of Klippel-Feil syndrome (KFS) based on your symptoms, a clinical exam and imaging studies. [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 ... [6] - Magnetic resonance imaging and computed tomography can assist in the diagnosis and be used to evaluate for associated abnormalities. [8] - Jan 16, 2024 — Diagnosis is made from physical examination, medical history and imaging findings including congenital fusion of 2 or more cervical vertebrae.

Nonsurgical Treatments for KFS

If self-care measures do not provide enough pain relief, a doctor may recommend one or more of the following:

• Physical therapy: This can help improve flexibility and strength in the neck muscles, reducing pain and discomfort.
• Non-steroidal anti-inflammatory drugs (NSAIDs): These medications can help reduce inflammation and relieve pain. Examples include ibuprofen and naproxen.

According to [4], these treatments are often recommended as a first line of treatment for Klippel-Feil syndrome, especially if the symptoms are mild. However, it's essential to consult with a healthcare professional to determine the best course of treatment for an individual case.

References:

• [4] Nonsurgical Treatments for KFS
• [6] Non-steroidal anti-inflammatory drugs (NSAIDs)
• [1] If you have mild Klippel-Feil treatment, you might need a cervical collar, a brace, non-steroidal anti-inflammatory drugs, and pain medication.

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. When diagnosing KFS, it's essential to consider other conditions that may present with similar symptoms. Here are some differential diagnoses for KFS:

• Healing osteomyelitis or discitis: Inflammation of the bone or disc can cause fusion, making it a potential differential diagnosis.
• Previous fusion without instrumentation: A previous surgical procedure, such as spinal fusion, can lead to fusion and mimic KFS symptoms.
• Juvenile idiopathic arthritis: This condition can cause joint inflammation and potentially lead to fusion in some cases.
• Surgical fusion: Previous surgery on the spine or neck can result in fusion, which may be mistaken for KFS.

These conditions should be ruled out through a comprehensive medical evaluation, including imaging studies and physical examination. A correct diagnosis of KFS requires a thorough understanding of these potential differential diagnoses.

References: [2][3][4][5][6][7]