Orofaciodigital Syndrome Type 14 (OFD14), also known as C2CD3-related OFD, is a rare genetic disorder that affects the development of the oral cavity, facial features, and digits. This condition is part of a group of disorders known as orofaciodigital syndromes, each characterized by unique but overlapping symptoms. OFD14 is caused by mutations in the C2CD3 gene, which plays a crucial role in the primary cilium’s structure and function, an essential component of many cellular processes in the body. Understanding the symptoms of OFD14 is vital for early diagnosis and management of the condition. DNA Labs UAE offers a comprehensive genetic test for the C2CD3 gene to aid in the diagnosis of Orofaciodigital Syndrome Type 14.
Symptoms of Orofaciodigital Syndrome Type 14
The symptoms of OFD14 can vary widely among affected individuals, but they generally involve malformations of the face, oral cavity, and digits. Some of the most common symptoms include:
- Oral Cavity Abnormalities: This can include a cleft lip and palate, tongue anomalies (such as bifid tongue), and dental anomalies (such as missing or extra teeth).
- Facial Features: Individuals with OFD14 may have a broad nasal bridge, hypertelorism (widely spaced eyes), and micrognathia (small jaw).
- Digital Abnormalities: Abnormalities of the fingers and toes are common, including polydactyly (extra digits), syndactyly (webbed or fused digits), and brachydactyly (short digits).
- Neurological Manifestations: Some affected individuals may experience developmental delays, intellectual disability, and seizures.
It is important to note that the severity and combination of symptoms can vary greatly among individuals with OFD14. Early diagnosis and intervention are crucial for managing the condition and improving the quality of life for those affected.
Genetic Testing for Orofaciodigital Syndrome Type 14
Genetic testing for OFD14 involves analyzing the C2CD3 gene for mutations that cause the syndrome. DNA Labs UAE offers a specialized genetic test for this purpose, providing a reliable means of diagnosis for families affected by this rare condition. The test involves a simple blood sample from the patient, which is then analyzed using advanced genetic sequencing technologies to identify mutations in the C2CD3 gene.
The cost of the C2CD3 Gene Orofaciodigital Syndrome Type 14 Genetic Test at DNA Labs UAE is 4400 AED. This comprehensive test is essential for confirming the diagnosis of OFD14, enabling targeted management and genetic counseling for affected families. For more information about this test and to schedule an appointment, please visit DNA Labs UAE.
Conclusion
Orofaciodigital Syndrome Type 14 is a rare genetic condition that presents a variety of challenges for those affected by it. Understanding the symptoms and obtaining an accurate diagnosis through genetic testing are critical steps in managing the condition effectively. DNA Labs UAE is committed to providing high-quality genetic testing services, including the C2CD3 gene test for OFD14, to support affected individuals and their families. By identifying the genetic basis of OFD14, families can gain valuable insights into the condition, enabling informed decisions about care and management.
With the right support and medical care, individuals with Orofaciodigital Syndrome Type 14 can lead fulfilling lives. Early diagnosis through genetic testing is a key component of this support, offering hope and guidance to those navigating the complexities of this rare condition.
