Phocomelia Syndrome, also known as Roberts Syndrome (RBS) or SC Phocomelia Syndrome, is a rare genetic disorder characterized by severe prenatal and postnatal growth retardation, limb deficiencies, and facial anomalies. The syndrome is caused by mutations in the ESCO2 gene, which plays a crucial role in the cohesion of sister chromatids during cell division. Due to its genetic nature, identifying the syndrome early through genetic testing can be crucial for managing the condition effectively. DNA Labs UAE offers a comprehensive ESCO2 Gene SC Phocomelia Syndrome Genetic Test to help diagnose this condition.
Symptoms of ESCO2 Gene SC Phocomelia Syndrome
The symptoms of ESCO2 Gene SC Phocomelia Syndrome can vary significantly from one individual to another but generally include a combination of the following:
- Limb abnormalities: One of the hallmark symptoms of the syndrome, individuals may have severely shortened limbs or may be missing limbs altogether. This can affect the arms, legs, or both.
- Facial anomalies: Many affected individuals exhibit facial irregularities such as cleft lip or palate, microcephaly (abnormally small head), micrognathia (small jaw), and ear abnormalities.
- Growth retardation: Both prenatal and postnatal growth delays are common, resulting in significantly shorter stature than average.
- Intellectual disability: Some individuals with ESCO2 Gene SC Phocomelia Syndrome may experience varying degrees of intellectual disability or developmental delays.
- Heart defects: Congenital heart defects are also a possible symptom of this syndrome, requiring early diagnosis and treatment.
Given the complexity and the severity of these symptoms, it is crucial for families who suspect their loved one may have ESCO2 Gene SC Phocomelia Syndrome to seek genetic testing.
ESCO2 Gene SC Phocomelia Syndrome Genetic Test
DNA Labs UAE is at the forefront of genetic testing for rare disorders, including the ESCO2 Gene SC Phocomelia Syndrome. Our test is designed to identify mutations in the ESCO2 gene that are responsible for the syndrome. The process involves collecting a DNA sample from the patient, usually through a blood draw or a cheek swab, which is then analyzed in our state-of-the-art laboratory.
The test is highly accurate and can provide families with the information they need to understand the condition better and to plan for the care and support of their loved one. The cost of the ESCO2 Gene SC Phocomelia Syndrome Genetic Test at DNA Labs UAE is 4400 AED.
For more information on the ESCO2 Gene SC Phocomelia Syndrome Genetic Test and to schedule a test, please visit our website at https://dnalabsuae.com/tests/esco2-gene-sc-phocomelia-syndrome-genetic-test/.
Conclusion
ESCO2 Gene SC Phocomelia Syndrome is a rare but serious genetic disorder that can significantly impact the quality of life for those affected and their families. Early diagnosis through genetic testing is crucial for managing the condition and mitigating some of the symptoms associated with the syndrome. DNA Labs UAE is committed to providing accurate and comprehensive genetic testing services, including the ESCO2 Gene SC Phocomelia Syndrome Genetic Test, to help families find the answers they need.
