Acrofacial Dysostosis 1, Nager Type, is a rare genetic disorder that affects various parts of the body, including the face, hands, and arms. This condition is primarily caused by mutations in the SF3B4 gene, which plays a crucial role in the development of these body parts during embryonic growth. Recognizing the symptoms early on can be pivotal for managing the condition effectively. DNA Labs UAE offers a specialized genetic test for diagnosing this condition, ensuring that individuals and families have access to critical information for their health management.
One of the primary symptoms of Acrofacial Dysostosis 1, Nager Type, is noticeable facial anomalies. These can include underdeveloped cheekbones and a small lower jaw, which may lead to breathing and feeding difficulties in infants. Additionally, individuals may have a cleft palate or a high-arched palate, which can affect speech and eating. Downslanting palpebral fissures and a prominent nose with a narrow bridge are also common facial features associated with this condition.
Limb abnormalities are another significant symptom of this disorder. Individuals may have underdeveloped or absent thumbs, which can significantly affect hand function. Forearm anomalies, such as radial hypoplasia, where the radius bone is underdeveloped, can lead to limited range of motion and affect daily activities. Moreover, some individuals may experience partial or complete absence of the radius, leading to distinctive positioning of the hands.
Hearing loss, both conductive and sensorineural, is also a symptom associated with Acrofacial Dysostosis 1, Nager Type. This can impact speech development and social interactions, making early intervention crucial. Additionally, some individuals may have heart defects and kidney abnormalities, which require careful monitoring and management.
To diagnose this condition accurately, DNA Labs UAE offers the SF3B4 Gene Acrofacial Dysostosis 1, Nager Type Genetic Test. The test is priced at 4400 AED, making it accessible for families seeking answers. The genetic test involves analyzing the SF3B4 gene for mutations that are known to cause the disorder. Early diagnosis through genetic testing can provide families with the opportunity to understand the condition better, anticipate medical needs, and seek appropriate treatments and interventions.
For more information about the SF3B4 Gene Acrofacial Dysostosis 1, Nager Type Genetic Test and to schedule a test, please visit DNA Labs UAE. Our team of experts is dedicated to providing accurate diagnoses and comprehensive support for families affected by this rare genetic disorder.
Understanding the symptoms and seeking timely genetic testing can make a significant difference in the management and treatment of Acrofacial Dysostosis 1, Nager Type. DNA Labs UAE is committed to advancing genetic testing services, offering hope and solutions for those navigating this challenging condition.
Symptoms of SF3B4 Gene Acrofacial Dysostosis 1, Nager Type
Acrofacial Dysostosis 1, Nager Type, is a rare genetic disorder that affects various parts of the body, including the face, hands, and arms. This condition is primarily caused by mutations in the SF3B4 gene, which plays a crucial role in the development of these body parts during embryonic growth. Recognizing the symptoms early on can be pivotal for managing the condition effectively. DNA Labs UAE offers a specialized genetic test for diagnosing this condition, ensuring that individuals and families have access to critical information for their health management.
One of the primary symptoms of Acrofacial Dysostosis 1, Nager Type, is noticeable facial anomalies. These can include underdeveloped cheekbones and a small lower jaw, which may lead to breathing and feeding difficulties in infants. Additionally, individuals may have a cleft palate or a high-arched palate, which can affect speech and eating. Downslanting palpebral fissures and a prominent nose with a narrow bridge are also common facial features associated with this condition.
Limb abnormalities are another significant symptom of this disorder. Individuals may have underdeveloped or absent thumbs, which can significantly affect hand function. Forearm anomalies, such as radial hypoplasia, where the radius bone is underdeveloped, can lead to limited range of motion and affect daily activities. Moreover, some individuals may experience partial or complete absence of the radius, leading to distinctive positioning of the hands.
Hearing loss, both conductive and sensorineural, is also a symptom associated with Acrofacial Dysostosis 1, Nager Type. This can impact speech development and social interactions, making early intervention crucial. Additionally, some individuals may have heart defects and kidney abnormalities, which require careful monitoring and management.
To diagnose this condition accurately, DNA Labs UAE offers the SF3B4 Gene Acrofacial Dysostosis 1, Nager Type Genetic Test. The test is priced at 4400 AED, making it accessible for families seeking answers. The genetic test involves analyzing the SF3B4 gene for mutations that are known to cause the disorder. Early diagnosis through genetic testing can provide families with the opportunity to understand the condition better, anticipate medical needs, and seek appropriate treatments and interventions.
For more information about the SF3B4 Gene Acrofacial Dysostosis 1, Nager Type Genetic Test and to schedule a test, please visit DNA Labs UAE. Our team of experts is dedicated to providing accurate diagnoses and comprehensive support for families affected by this rare genetic disorder.
Understanding the symptoms and seeking timely genetic testing can make a significant difference in the management and treatment of Acrofacial Dysostosis 1, Nager Type. DNA Labs UAE is committed to advancing genetic testing services, offering hope and solutions for those navigating this challenging condition.
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