Meckel Syndrome is a rare genetic disorder characterized by severe developmental abnormalities. It is estimated to affect approximately 1 in 13,250 to 1 in 140,000 live births worldwide. The prevalence varies among different populations and ethnic groups. This autosomal recessive condition is characterized by multiple organ malformations, including kidney cysts, brain abnormalities, polydactyly, and liver fibrosis. Sadly, most affected individuals do not survive beyond infancy or early childhood. Genetic counseling and prenatal testing are crucial for families with a history of Meckel Syndrome to assess the risk of recurrence and provide appropriate support.
Meckel Syndrome is a rare and severe genetic disorder that affects multiple organ systems in the body. It is characterized by various developmental abnormalities, including kidney cysts, liver fibrosis, and central nervous system malformations. The prevalence of Meckel Syndrome is estimated to be approximately 1 in 13,250 to 1 in 140,000 live births, making it an extremely rare condition.
Due to its autosomal recessive inheritance pattern, the syndrome is more commonly observed in populations with a higher rate of consanguineous marriages. The disorder is known to occur in different ethnic groups worldwide, although the exact prevalence may vary among populations.
Meckel Syndrome is typically diagnosed during pregnancy through ultrasound examinations or after birth based on the presence of characteristic physical features and organ abnormalities. Unfortunately, the prognosis for individuals with Meckel Syndrome is generally poor, as the condition often leads to severe complications and early infant mortality.
Research efforts are ongoing to better understand the underlying genetic causes and potential treatment options for Meckel Syndrome. Genetic counseling and prenatal testing are recommended for families with a history of the disorder to assess the risk of recurrence in future pregnancies.