—
Klippel-Feil Syndrome (KFS) is a rare, congenital disorder characterized by the fusion of any two of the seven cervical vertebrae. It is a condition that can lead to a variety of physical and sometimes neurological symptoms due to the abnormal fusion of the spinal bones in the neck. Among the different genetic causes of KFS, mutations in the MEOX1 gene have been identified as a cause of Klippel-Feil Syndrome Type 2, which is inherited in an autosomal dominant manner. Understanding the symptoms and undergoing genetic testing can be crucial for managing this condition effectively.
Symptoms associated with Klippel-Feil Syndrome Type 2 due to mutations in the MEOX1 gene can vary widely among individuals but typically include a short neck, low hairline at the back of the head, and restricted mobility of the upper spine. Some individuals may also experience other skeletal abnormalities such as Sprengel’s deformity, scoliosis (curvature of the spine), spina bifida, and anomalies of the ribs. Beyond skeletal issues, individuals with KFS may have hearing impairments, respiratory problems, heart defects, and renal anomalies.
Early diagnosis and intervention are vital for managing the symptoms and preventing potential complications associated with KFS. One of the most effective ways to confirm a diagnosis of Klippel-Feil Syndrome Type 2 is through genetic testing, specifically looking for mutations in the MEOX1 gene.
DNA Labs UAE offers a comprehensive genetic test for Klippel-Feil Syndrome Type 2, focusing on the MEOX1 gene. This test is crucial for individuals presenting symptoms of KFS or those with a family history of the condition. The test is priced at 4400 AED, providing a reliable and accurate diagnosis that can guide further management and treatment plans.
For more information or to request the test, please visit [DNA Labs UAE](https://dnalabsuae.com/tests/meox1-gene-klippel-feil-syndrome-type-2-autosomal-dominant-genetic-test/).
—
Symptoms of MEOX1 Gene Klippel-Feil Syndrome Type 2
Klippel-Feil Syndrome (KFS) is a rare, congenital disorder characterized by the fusion of any two of the seven cervical vertebrae. It is a condition that can lead to a variety of physical and sometimes neurological symptoms due to the abnormal fusion of the spinal bones in the neck. Among the different genetic causes of KFS, mutations in the MEOX1 gene have been identified as a cause of Klippel-Feil Syndrome Type 2, which is inherited in an autosomal dominant manner. Understanding the symptoms and undergoing genetic testing can be crucial for managing this condition effectively.
Symptoms associated with Klippel-Feil Syndrome Type 2 due to mutations in the MEOX1 gene can vary widely among individuals but typically include a short neck, low hairline at the back of the head, and restricted mobility of the upper spine. Some individuals may also experience other skeletal abnormalities such as Sprengel’s deformity, scoliosis (curvature of the spine), spina bifida, and anomalies of the ribs. Beyond skeletal issues, individuals with KFS may have hearing impairments, respiratory problems, heart defects, and renal anomalies.
Early diagnosis and intervention are vital for managing the symptoms and preventing potential complications associated with KFS. One of the most effective ways to confirm a diagnosis of Klippel-Feil Syndrome Type 2 is through genetic testing, specifically looking for mutations in the MEOX1 gene.
Genetic Test for Klippel-Feil Syndrome Type 2
DNA Labs UAE offers a comprehensive genetic test for Klippel-Feil Syndrome Type 2, focusing on the MEOX1 gene. This test is crucial for individuals presenting symptoms of KFS or those with a family history of the condition. The test is priced at 4400 AED, providing a reliable and accurate diagnosis that can guide further management and treatment plans.
For more information or to request the test, please visit DNA Labs UAE.
“`
