Symptoms of PIK3R2 Gene Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome
PIK3R2 gene megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, often abbreviated as MPPH syndrome, is a rare genetic disorder that affects the development of the brain. It is caused by mutations in the PIK3R2 gene, which plays a crucial role in cell growth, proliferation, and survival. The symptoms of this syndrome can vary significantly among affected individuals but generally include a combination of neurological and physical abnormalities.
Neurological Symptoms
The most prominent feature of MPPH syndrome is megalencephaly, which is characterized by an abnormally large brain. This can lead to a range of neurological symptoms, including:
- Delayed development, especially in speech and motor skills
- Intellectual disability, which can range from mild to severe
- Epilepsy, with seizures that may be difficult to control
- Problems with coordination and balance
Polymicrogyria, another key feature of the syndrome, involves the brain having too many folds that are unusually small. This can further contribute to developmental delays and intellectual disability.
Physical Symptoms
In addition to neurological symptoms, individuals with MPPH syndrome may exhibit several physical abnormalities, including:
- Polydactyly, or extra fingers and toes
- Hydrocephalus, which is an accumulation of fluid in the brain that can lead to increased head size and pressure on the brain
- Distinct facial features, such as a prominent forehead, upslanting palpebral fissures, and a short nose with a broad tip
- Structural abnormalities in other parts of the body, including the heart, kidneys, and skeleton
Genetic Testing for MPPH Syndrome
Genetic testing is crucial for diagnosing MPPH syndrome accurately. DNA Labs UAE offers a comprehensive PIK3R2 gene megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome genetic test that can confirm the presence of mutations in the PIK3R2 gene. This test is essential not only for diagnosis but also for guiding treatment and management strategies, as well as for genetic counseling for affected families.
The cost of the genetic test is 4400 AED, which is a valuable investment in understanding the genetic basis of the syndrome and making informed decisions about care and management.
Conclusion
MPPH syndrome is a complex condition that requires comprehensive care and management due to its wide range of symptoms and potential complications. Early diagnosis through genetic testing is critical for optimizing outcomes and improving the quality of life for individuals affected by this syndrome. DNA Labs UAE is committed to providing accurate and reliable genetic testing services, including the PIK3R2 gene test, to support patients and their families in navigating the challenges of MPPH syndrome.
