Cleidocranial dysplasia (CCD) is a rare genetic disorder that primarily affects the development of bones and teeth. The condition is characterized by abnormal bone growth and development, leading to distinctive physical traits and dental abnormalities. CCD is caused by mutations in the RUNX2 gene, which plays a critical role in the development and maintenance of bone and cartilage. Understanding the symptoms of this condition is essential for early diagnosis and management. DNA Labs UAE offers a comprehensive genetic test for RUNX2 gene mutations, providing invaluable information for affected individuals and their families.
Symptoms of Cleidocranial Dysplasia
Cleidocranial dysplasia presents a wide range of symptoms, affecting individuals differently. The severity and combination of symptoms can vary, but common signs include:
- Delayed closure of the fontanelles (soft spots on a baby’s skull)
- Underdeveloped or absent collarbones, allowing unusual flexibility of the shoulders
- Dental abnormalities such as delayed loss of baby teeth, delayed appearance of adult teeth, and overcrowded or misaligned teeth
- Short stature compared to family members
- Hand and foot abnormalities, including short, tapered fingers and broad thumbs
- Abnormal skull shape due to premature fusion of certain skull bones
- Hearing loss, which may occur due to abnormal bone growth in the middle ear
These symptoms can lead to various complications, including dental problems, hearing loss, and respiratory issues. Early diagnosis and treatment are crucial for managing the condition and improving the quality of life for those affected.
RUNX2 Gene Cleidocranial Dysplasia Genetic Test
DNA Labs UAE offers a genetic test specifically designed to detect mutations in the RUNX2 gene, the primary cause of cleidocranial dysplasia. This test is a valuable tool for confirming the diagnosis of CCD, especially in cases where the clinical symptoms are unclear or when there is a need to differentiate CCD from other similar conditions. The test involves a simple blood draw or cheek swab, making it a non-invasive procedure.
The cost of the RUNX2 gene cleidocranial dysplasia genetic test at DNA Labs UAE is 4400 AED. This price includes a comprehensive analysis of the RUNX2 gene for mutations associated with CCD. Results from the test can provide crucial information for affected individuals and their families, helping them make informed decisions about management and treatment options.
Benefits of Genetic Testing for Cleidocranial Dysplasia
Genetic testing for cleidocranial dysplasia offers several benefits:
- Confirms the diagnosis of CCD, allowing for targeted management and treatment strategies.
- Provides information on the risk of passing the condition to future generations, which is valuable for family planning.
- Facilitates early intervention and management of symptoms, improving the overall quality of life for affected individuals.
- Contributes to a better understanding of the condition, aiding in the development of future treatments.
For more information on the RUNX2 gene cleidocranial dysplasia genetic test and to schedule your test, please visit DNA Labs UAE.
Early diagnosis and genetic testing are key to managing cleidocranial dysplasia effectively. By understanding the symptoms and taking advantage of the genetic testing services offered by DNA Labs UAE, individuals and families affected by CCD can navigate the condition with greater confidence and support.
