Naegeli-Franceschetti-Jadassohn (NFJ) syndrome is a rare genetic disorder that affects the skin, teeth, and sweat glands. It is caused by mutations in the KRT14 gene, which plays a crucial role in the development and maintenance of skin cells and other keratinized tissues. Individuals with NFJ syndrome may experience a variety of symptoms, making it important to understand the condition for proper diagnosis and management. DNA Labs UAE offers a genetic test specifically designed to identify mutations in the KRT14 gene, providing essential information for individuals and families affected by NFJ syndrome.
Symptoms of Naegeli-Franceschetti-Jadassohn Syndrome
Naegeli-Franceschetti-Jadassohn syndrome presents with a wide range of symptoms, varying significantly from one individual to another. Some of the most common symptoms associated with NFJ syndrome include:
- Reticular skin pigmentation: Characterized by a net-like pattern of darker skin, typically appearing in infancy or early childhood and fading after puberty.
- Dental anomalies: Individuals may have missing teeth (hypodontia) or teeth that are small and widely spaced.
- Reduced ability to sweat (hypohidrosis): This can lead to overheating, as sweating is a key mechanism for regulating body temperature.
- Nail abnormalities: Nails may be thickened, brittle, or abnormally shaped.
- Palmoplantar keratoderma: A condition that causes thick, hard patches of skin on the palms of the hands and soles of the feet.
- Sensorineural hearing loss: Some individuals may experience hearing loss that is caused by damage to the inner ear or to the nerve pathways from the inner ear to the brain.
It’s important to note that the severity and combination of symptoms can vary widely among individuals with NFJ syndrome. Early diagnosis and management are crucial in improving the quality of life for those affected.
KRT14 Gene Naegeli-Franceschetti-Jadassohn Syndrome Genetic Test
DNA Labs UAE offers a comprehensive genetic test for NFJ syndrome, targeting mutations in the KRT14 gene. This test is a vital tool for diagnosing the condition, particularly in individuals who exhibit the characteristic symptoms of NFJ syndrome. By analyzing the KRT14 gene, the test can confirm the presence of mutations known to cause NFJ syndrome, providing valuable information for affected individuals and their families.
Test Cost
The cost of the KRT14 gene Naegeli-Franceschetti-Jadassohn syndrome genetic test at DNA Labs UAE is 4400 AED. This investment covers the genetic analysis and comprehensive report detailing the findings. The report is an invaluable resource for understanding the genetic basis of NFJ syndrome and can guide future medical and personal decisions.
Conclusion
Naegeli-Franceschetti-Jadassohn syndrome is a complex condition with a broad spectrum of symptoms. Understanding the genetic basis of NFJ syndrome is crucial for accurate diagnosis and effective management. The KRT14 gene test offered by DNA Labs UAE provides a definitive method for identifying mutations associated with NFJ syndrome, offering hope and guidance for affected individuals and their families. For more information on the test and to schedule an appointment, visit DNA Labs UAE.
