Symptoms of IFT122 Gene Cranioectodermal Dysplasia Type 1 Genetic Test
Cranioectodermal Dysplasia Type 1, also known as Sensenbrenner Syndrome, is a rare genetic disorder that affects multiple parts of the body, including the skeleton, kidneys, and skin. This condition is caused by mutations in the IFT122 gene, which plays a crucial role in the development and function of cilia. Cilia are microscopic, hair-like structures that extend from the surface of many types of cells and are involved in various cellular processes. The diagnosis of this disorder is critical for the management and treatment of symptoms, which can vary significantly in severity and nature among affected individuals.
The primary symptoms associated with Cranioectodermal Dysplasia Type 1 due to mutations in the IFT122 gene include a combination of craniofacial, skeletal, and ectodermal anomalies. These symptoms are crucial for early diagnosis and intervention, which can significantly improve the quality of life for affected individuals.
Key Symptoms of Cranioectodermal Dysplasia Type 1
- Craniofacial Abnormalities: Individuals with this condition often have distinctive craniofacial features, including a narrow, elongated head (dolichocephaly), a prominent forehead, and a flattened midface. Additionally, abnormalities such as a cleft palate or bifid uvula may be present.
- Skeletal Anomalies: Skeletal issues are common and may include short stature, abnormalities in the fingers and toes (such as polydactyly or syndactyly), and narrow chest with rib anomalies. Hip dysplasia and abnormal curvature of the spine (scoliosis or kyphosis) can also occur.
- Ectodermal Dysplasia: This aspect of the syndrome can manifest as sparse hair, abnormal tooth development, and skin that may be dry or thickened. Nails may also be affected, appearing thickened or abnormally shaped.
- Kidney Problems: Many individuals experience kidney anomalies, which can range from mild to severe. These issues can include structural abnormalities and impaired kidney function, potentially leading to chronic kidney disease.
- Respiratory Issues: Respiratory complications, including recurrent respiratory infections, can occur due to rib and chest abnormalities that affect breathing.
It is important to note that the severity and combination of symptoms can vary widely among individuals with Cranioectodermal Dysplasia Type 1. Early diagnosis through genetic testing is crucial for managing symptoms and improving outcomes.
IFT122 Gene Cranioectodermal Dysplasia Type 1 Genetic Test
Genetic testing for mutations in the IFT122 gene is available to confirm a diagnosis of Cranioectodermal Dysplasia Type 1. DNA Labs UAE offers a comprehensive genetic test that can identify mutations in the IFT122 gene, providing valuable information for affected individuals and their families. This test is essential for confirming the diagnosis, understanding the risk of recurrence in future pregnancies, and guiding management and treatment decisions.
The cost of the IFT122 Gene Cranioectodermal Dysplasia Type 1 Genetic Test at DNA Labs UAE is 4400 AED. For more information about the test and to schedule an appointment, please visit DNA Labs UAE.
Early diagnosis and intervention are crucial in managing the symptoms associated with Cranioectodermal Dysplasia Type 1. Genetic testing plays a pivotal role in this process, offering hope and support to affected individuals and their families. If you suspect that you or a loved one may be affected by this condition, consider reaching out to DNA Labs UAE for consultation and testing options.
