Cornelia de Lange Syndrome (CdLS) is a rare genetic disorder that affects various parts of the body. Among the genes associated with this syndrome, mutations in the SMC1A gene lead to a specific subtype known as Cornelia de Lange Syndrome Type 2. Recognizing the symptoms associated with this condition is crucial for early diagnosis and management. DNA Labs UAE offers a specialized genetic test for this condition, providing vital information for affected families.
Symptoms of SMC1A Gene Cornelia de Lange Syndrome Type 2
Cornelia de Lange Syndrome Type 2, caused by mutations in the SMC1A gene, presents a range of symptoms that can vary significantly in severity among individuals. Some of the most common symptoms include:
- Growth delays: Children with this condition often experience pre- and postnatal growth retardation, leading to shorter stature and lower weight than peers.
- Distinctive facial features: Individuals may have arched eyebrows that meet in the middle, long eyelashes, low-set ears, and a small, upturned nose, contributing to a unique facial appearance.
- Limb abnormalities: Malformations such as small hands and feet, partially joined fingers or toes (syndactyly), and missing limbs or digits are not uncommon.
- Intellectual disability: Varying degrees of cognitive impairment are observed, ranging from mild to severe, affecting learning and development.
- Behavioral issues: Many individuals exhibit behavioral challenges, including autism spectrum disorders, ADHD, anxiety, and mood swings.
- Gastrointestinal problems: Feeding difficulties, gastroesophageal reflux, and other gastrointestinal issues are prevalent, affecting nutrition and growth.
- Hearing and vision problems: Sensory impairments, including hearing loss and vision issues, can also be part of the syndrome’s manifestation.
It is important to note that not all individuals with SMC1A gene mutations will experience all the above symptoms, and the severity can vary widely.
SMC1A Gene Cornelia de Lange Syndrome Type 2 Genetic Test
DNA Labs UAE offers a comprehensive genetic test for Cornelia de Lange Syndrome Type 2, focusing on mutations in the SMC1A gene. This test is crucial for confirming the diagnosis, understanding the risk of recurrence in families, and guiding management and treatment decisions. Early diagnosis through genetic testing can significantly improve the quality of life for individuals with this condition by enabling tailored medical and educational interventions.
Test Cost
The cost of the SMC1A Gene Cornelia de Lange Syndrome Type 2 Genetic Test at DNA Labs UAE is 4400 AED. While the test cost may seem significant, the invaluable insights it provides into managing the condition and planning for the future can make it a worthwhile investment for affected families.
Conclusion
Understanding the symptoms of Cornelia de Lange Syndrome Type 2 and the availability of genetic testing can empower families and healthcare providers to make informed decisions. If you suspect that you or your child may be showing signs of this condition, consider reaching out to DNA Labs UAE for a consultation. For more information about the test and how to proceed, visit https://dnalabsuae.com/tests/smc1a-gene-cornelia-de-lange-syndrome-type-2-genetic-test/.
