Meckel Syndrome

What’s in this article

What is Meckel syndrome?
Signs and symptoms
Diagnosis
Treatment and prevention

What is Meckel syndrome?
Meckel syndrome, also known as Meckel-Gruber syndrome is a rare and deadly autosomal recessive genetic disorder. Sufferers of this condition will usually die before or shortly after birth, with the oldest survivor only living to four months old. Thisl syndrome affects 1 in 13,250 to 1 in 140,000 people worldwide and is more prevalent in the Finnish population (1/9,000), Belgian and Kuwaiti Bedouin populations (1/3,500), and Gujarati Indians (1/1,300). Recessive genetic disorders such as Meckel syndrome occur when a child inherits the same abnormal gene for the same trait from each parent. If the child receives one normal gene and one abnormal gene for the condition, the person will be a carrier, but will not show symptoms. The risk for Meckel syndrome is increased significantly if the parents are closely related.

Signs and symptoms
Meckel syndrome has very prominent and severe symptoms so will usually not go unnoticed during pregnancy.

Enlarged kidneys with numerous fluid-filled sacs
Encephalocele (a sac that protrudes from the brain, through a defect in the back of the skull)
Extra fingers and toes
Liver cirrhosis
Facial abnormalities such as unusually small jaw and/or eyes
Abnormalities within the genitourinary tract (genitals and urinary tract)

Diagnosis
Diagnosis of Meckel syndrome should be possible before birth through prenatal scans. The scans will show certain obvious abnormalities early on such as heart and liver function, extra fingers and/or toes and enlarged kidneys. This can be detected as early as 12 weeks at the first-trimester scan.

Treatment and Prevention
Unfortunately, there is no treatment available for Meckel syndrome, making it a deadly condition. Symptoms associated with this condition are too severe to recover from or treat. There is also no way of preventing the syndrome, the only way to become aware as to whether you or your partner is a carrier, is to get genetically tested.

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