Cornelia de Lange Syndrome (CdLS) is a rare genetic disorder that can affect multiple parts of the body. This condition is known for its distinctive facial features, growth delays, intellectual disability, and limb defects. Among the genes associated with CdLS, the RAD21 gene plays a critical role. Mutations in the RAD21 gene can lead to Cornelia de Lange Syndrome Type 4, a specific subtype of this condition. Understanding the symptoms associated with this genetic variant is crucial for early diagnosis and management. DNA Labs UAE offers a comprehensive genetic test for this condition, priced at 4400 AED. More information about this test can be found at DNA Labs UAE.
Symptoms of RAD21 Gene Cornelia de Lange Syndrome Type 4
Cornelia de Lange Syndrome Type 4, caused by mutations in the RAD21 gene, shares many symptoms with other types of CdLS, but it also has its unique characteristics. Recognizing these symptoms is vital for the timely intervention and support for affected individuals and their families.
- Distinctive Facial Features: Individuals with this condition often have unique facial characteristics, including arched eyebrows that meet in the middle, long eyelashes, low-set ears, and a small, upturned nose.
- Growth Delays: Children with Cornelia de Lange Syndrome Type 4 frequently experience growth delays, resulting in shorter stature and lower weight compared to their peers.
- Intellectual Disability: Many affected individuals have mild to moderate intellectual disabilities, impacting their learning abilities and daily functioning.
- Limb Anomalies: Limb abnormalities, such as small hands and feet, missing fingers, or forearms, are common in those with this condition.
- Gastrointestinal Issues: Gastroesophageal reflux, feeding difficulties, and other gastrointestinal problems are often seen in individuals with this syndrome.
- Behavioral Challenges: Behavioral issues, including self-injury, aggression, and autistic-like behaviors, can be present.
It’s important to note that the severity and presence of these symptoms can vary significantly among individuals with Cornelia de Lange Syndrome Type 4. Early diagnosis through genetic testing can help tailor the management and support to the needs of each individual.
Genetic Test for Cornelia de Lange Syndrome Type 4
DNA Labs UAE offers a genetic test specifically designed to identify mutations in the RAD21 gene associated with Cornelia de Lange Syndrome Type 4. Priced at 4400 AED, this test is a crucial step in confirming the diagnosis, understanding the risk of recurrence in families, and guiding management and support strategies.
The testing process is straightforward, requiring only a simple blood sample or cheek swab. The results provide valuable insights into the genetic underpinnings of the condition, enabling healthcare providers to offer personalized care plans based on the genetic makeup of the individual.
For more information about the RAD21 gene Cornelia de Lange Syndrome Type 4 genetic test and to schedule your test, please visit DNA Labs UAE. Early diagnosis can make a significant difference in the lives of those affected by this condition, providing them with the necessary interventions and support to improve their quality of life.
