From the Research
Fowler syndrome is a rare genetic disorder with no effective treatment or cure available, and management is primarily focused on supportive care and genetic counseling for families with a history of the condition. The condition is caused by mutations in the FLVCR2 gene and typically results in severe developmental abnormalities of the brain and central nervous system 1. Unfortunately, Fowler syndrome is usually fatal before or shortly after birth, and there is limited information available on long-term survival and management. However, some studies have reported cases of survival beyond infancy, highlighting the importance of genetic counseling and prenatal diagnosis for families with a history of the condition 1.
In terms of management, there is no specific treatment available for Fowler syndrome, and care is primarily focused on supporting the affected individual and their family. This may include provision of palliative care, as well as genetic counseling to help families understand the risks of recurrence in future pregnancies. Prenatal diagnosis through chorionic villus sampling or amniocentesis can detect the condition in high-risk pregnancies, allowing families to make informed decisions about their care 1.
It is essential to note that the evidence available on Fowler syndrome is limited, and further research is needed to better understand the condition and develop effective management strategies. However, based on the available evidence, genetic counseling and prenatal diagnosis are crucial for families with a history of Fowler syndrome, and supportive care should be provided to affected individuals and their families. The most recent and highest quality study on the topic, published in 2018, highlights the importance of genetic counseling and prenatal diagnosis in managing Fowler syndrome 1.
Some key points to consider in the management of Fowler syndrome include:
- Genetic counseling for families with a history of the condition
- Prenatal diagnosis through chorionic villus sampling or amniocentesis
- Supportive care for affected individuals and their families
- Palliative care for affected individuals
- Further research is needed to better understand the condition and develop effective management strategies.
Overall, the management of Fowler syndrome is primarily focused on supportive care and genetic counseling, and further research is needed to develop effective treatment strategies.