Symptoms of CEP63 Gene Seckel Syndrome Type 6
Seckel Syndrome Type 6, caused by mutations in the CEP63 gene, is a rare genetic disorder characterized by a range of symptoms that significantly impact the affected individuals. This condition is part of a group of disorders known as Seckel syndrome, which is primarily associated with growth delays, microcephaly (a significantly smaller head size), and a unique facial appearance. The CEP63 gene plays a crucial role in the normal development and function of various body systems, and mutations in this gene can lead to the distinctive features and health issues associated with Seckel Syndrome Type 6.
Understanding the Symptoms
The symptoms of Seckel Syndrome Type 6 can vary widely among individuals but generally include the following:
- Growth Deficiency: Prenatal growth deficiency, leading to low birth weight and length, followed by postnatal growth retardation.
- Microcephaly: Significantly reduced head circumference, often accompanied by intellectual disability of varying degrees.
- Distinctive Facial Features: A unique facial appearance characterized by a narrow face, receding forehead, large eyes, beaked nose, and underdeveloped jaw.
- Skeletal Anomalies: Possible skeletal abnormalities such as dislocated hips, unusually curved spine (scoliosis), and defects in the bones of the arms and legs.
- Developmental Delays: Delays in reaching developmental milestones, including motor skills and speech, are common.
- Neurological Issues: There may be a spectrum of neurological issues, ranging from mild to severe intellectual disability, seizures, and brain abnormalities.
It’s important to note that the severity and combination of symptoms can vary significantly from one individual to another. Early diagnosis and intervention can help manage symptoms, improve quality of life, and provide crucial information for family planning.
CEP63 Gene Seckel Syndrome Type 6 Genetic Test
DNA Labs UAE offers a comprehensive genetic test for Seckel Syndrome Type 6, focusing on mutations in the CEP63 gene. This test is essential for confirming the diagnosis, understanding the risk of passing the condition to future generations, and guiding treatment and management decisions. The test involves collecting a small sample of blood or saliva, which is then analyzed in our state-of-the-art laboratory for the presence of mutations in the CEP63 gene.
The cost of the CEP63 Gene Seckel Syndrome Type 6 Genetic Test is 4400 AED. While the price may seem significant, the value it provides in terms of accurate diagnosis, informed decision-making, and personalized management plans cannot be overstated. For more information about the test and to schedule your appointment, please visit our website.
Conclusion
Seckel Syndrome Type 6 is a complex condition with a wide range of symptoms that can significantly affect the lives of those diagnosed with it. Understanding the symptoms and obtaining an accurate diagnosis through the CEP63 Gene Seckel Syndrome Type 6 Genetic Test are crucial steps in managing the condition effectively. DNA Labs UAE is committed to providing comprehensive support and accurate testing to help individuals and families navigate the challenges of Seckel Syndrome Type 6. For further information and to book a test, please visit our website.
