Acromicric Dysplasia is a rare genetic disorder that affects the development of bones and connective tissue, leading to short stature, short hands and feet, and facial abnormalities. This condition is caused by mutations in the FBN1 gene, which plays a crucial role in the formation and function of connective tissue throughout the body. Understanding the symptoms of Acromicric Dysplasia and the importance of genetic testing can help in early diagnosis and management of the condition.
Symptoms of Acromicric Dysplasia
Acromicric Dysplasia presents with a variety of symptoms that are typically noticeable from birth or early childhood. These symptoms include:
- Short stature, often becoming apparent in the first few years of life
- Short hands and feet, with stubby fingers and toes
- Limited joint mobility and stiffness, especially in the hands and feet
- Mild facial abnormalities such as a round face, small jaw, and crowded teeth
- Possible hearing loss or middle ear problems
- Delayed bone age
- Mild to moderate intellectual disability or learning difficulties (in some cases)
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 and improve quality of life.
Importance of Genetic Testing for Acromicric Dysplasia
Genetic testing plays a critical role in the diagnosis of Acromicric Dysplasia. By identifying mutations in the FBN1 gene, healthcare providers can confirm a diagnosis, even in cases where symptoms may be mild or atypical. This test is also invaluable for families who may have a history of Acromicric Dysplasia, as it can help identify carriers of the mutation and provide information about the risk of passing the condition on to future generations.
The FBN1 Gene Acromicric Dysplasia Genetic Test is a specialized test available at DNA Labs UAE. This test is designed to detect mutations in the FBN1 gene that are associated with Acromicric Dysplasia. The test involves collecting a small sample of blood or saliva from the patient, which is then analyzed in the laboratory for the presence of genetic mutations.
Test Cost
The cost of the FBN1 Gene Acromicric Dysplasia Genetic Test at DNA Labs UAE is 4400 AED. This price includes the cost of sample collection, genetic analysis, and a comprehensive report detailing the test results. It’s important to consult with a healthcare provider to understand the benefits and limitations of the test and to determine whether it’s appropriate for you or your family member.
Conclusion
Acromicric Dysplasia is a rare but impactful genetic disorder that requires early diagnosis and management. The FBN1 Gene Acromicric Dysplasia Genetic Test offered by DNA Labs UAE provides a crucial tool for diagnosing this condition, enabling affected individuals and their families to access the support and interventions they need. For more information about this test and to schedule an appointment, please visit DNA Labs UAE.
