Beare-Stevenson Cutis Gyrata Syndrome is a rare genetic disorder that affects the development of various parts of the body. This condition is caused by mutations in the FGFR2 gene, which plays a crucial role in cell division, growth, and maintenance. Recognizing the symptoms early on can lead to timely diagnosis and management of the condition. DNA Labs UAE offers a comprehensive genetic test for this syndrome, which is pivotal for families seeking answers about this rare genetic condition.
Symptoms of FGFR2 Gene Beare-Stevenson Cutis Gyrata Syndrome
The symptoms of Beare-Stevenson Cutis Gyrata Syndrome are varied and can affect multiple body systems. The most prominent symptoms include:
- Distinctive Facial Features: Individuals with this syndrome often have unique facial characteristics such as a furrowed skin appearance on the forehead and scalp, which is referred to as cutis gyrata. Other features may include a beaked nose, an underdeveloped upper jaw, and widely spaced eyes.
- Skin Abnormalities: The skin may present with thickening and furrowing, particularly around the ears, neck, and thighs. These skin abnormalities are not only cosmetic but can also lead to dermatological issues.
- Craniosynostosis: This condition involves the premature fusion of skull bones, leading to an abnormal head shape and potentially affecting brain development.
- Acrocephalosyndactyly: This involves the fusion of fingers and toes, leading to webbed or joined digits, and can significantly impact hand and foot functionality.
- Acanthosis Nigricans: Some individuals may develop dark, velvety patches in the folds and creases of their skin, particularly around the neck and in the armpits.
- Respiratory and Ear Infections: Due to abnormalities in facial structure and function, individuals with Beare-Stevenson Cutis Gyrata Syndrome may experience frequent respiratory and ear infections.
It’s important to note that the severity and combination of symptoms can vary widely among individuals with this syndrome. Early and accurate diagnosis is crucial for managing symptoms and improving quality of life.
FGFR2 Gene Beare-Stevenson Cutis Gyrata Syndrome Genetic Test at DNA Labs UAE
DNA Labs UAE offers a genetic test specifically designed to diagnose Beare-Stevenson Cutis Gyrata Syndrome by identifying mutations in the FGFR2 gene. This test is an invaluable tool for families seeking clarity about this condition. The test cost is 4400 AED, which is a critical investment in understanding and managing this rare genetic disorder.
The process involves collecting a small sample of blood or saliva, which is then analyzed in our state-of-the-art laboratory. Our team of genetic experts uses advanced sequencing technologies to identify any mutations in the FGFR2 gene that are indicative of Beare-Stevenson Cutis Gyrata Syndrome. The results of this test can provide essential information for diagnosis, treatment planning, and genetic counseling.
For more information about the FGFR2 Gene Beare-Stevenson Cutis Gyrata Syndrome Genetic Test, or to schedule a test, please visit our website.
Understanding the genetic basis of Beare-Stevenson Cutis Gyrata Syndrome is crucial for affected individuals and their families. Through comprehensive testing, DNA Labs UAE aims to provide insights and support for those navigating this challenging condition. Our dedicated team is committed to offering accurate, reliable, and compassionate genetic testing services.
