Ectodermal dysplasia, ectrodactyly, and macular dystrophy (EEM) are rare, inherited conditions caused by mutations in the CDH3 gene. This complex syndrome is characterized by a unique combination of symptoms affecting the skin, limbs, and eyes. Recognizing the signs and understanding the genetic basis of these conditions is crucial for early diagnosis and management. DNA Labs UAE offers a comprehensive genetic test for the CDH3 gene mutation, helping families identify the condition and take informed steps towards treatment and care.
Symptoms of CDH3 Gene Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy
The symptoms of this genetic syndrome can vary widely among affected individuals but typically include aspects of ectodermal dysplasia, ectrodactyly, and macular dystrophy. Ectodermal dysplasia affects the development of the skin, hair, nails, and teeth. Individuals with this condition may have sparse hair, abnormal or missing teeth, and fragile, thin skin. Ectrodactyly, often referred to as “split-hand/split-foot malformation,” involves a cleft in the hand or foot, which may look like a claw due to missing central digits. Macular dystrophy impacts the retina, leading to progressive vision loss.
Importance of Early Diagnosis
Early diagnosis of this syndrome is vital for managing its symptoms and improving the quality of life for those affected. Timely intervention can help address vision problems, dental issues, and skin care, significantly enhancing day-to-day comfort and functionality. Genetic testing for mutations in the CDH3 gene is a crucial step in confirming the diagnosis and enabling families to make informed decisions about care and management.
Genetic Test for CDH3 Gene Mutation at DNA Labs UAE
DNA Labs UAE offers a specialized genetic test for identifying mutations in the CDH3 gene, responsible for ectodermal dysplasia, ectrodactyly, and macular dystrophy. This test is a powerful tool for families seeking answers about this rare condition. By confirming the presence of a CDH3 gene mutation, affected individuals can access targeted support and treatment options. The cost of the test is 4400 AED, an investment in understanding and managing this complex syndrome.
-
Comprehensive analysis of the CDH3 gene
-
Identification of mutations linked to ectodermal dysplasia, ectrodactyly, and macular dystrophy
-
Cost: 4400 AED
For more information about the CDH3 gene ectodermal dysplasia, ectrodactyly, and macular dystrophy genetic test, please visit DNA Labs UAE.
Conclusion
The symptoms of ectodermal dysplasia, ectrodactyly, and macular dystrophy due to CDH3 gene mutations are complex and varied. Understanding these symptoms and the genetic underpinnings of the syndrome is crucial for early diagnosis and intervention. The genetic test offered by DNA Labs UAE provides a valuable resource for families affected by this condition, offering hope for better management and care. With a cost of 4400 AED, it represents a significant step towards a clearer understanding of the condition and the path forward.
