Meckel syndrome is a rare genetic disease that causes a variety of birth defects affecting multiple organs of the body. Diagnosis usually is made by ultrasound during the second trimester of pregnancy, although some newborns are diagnosed as the result of obvious physical deformities at birth. Some of the most common symptoms of Meckel syndrome include an enlarged soft spot, extra fingers or toes, polycystic kidneys and underdeveloped lungs and liver. Although the pregnancy might seem normal, a child who has this condition will either be stillborn or will die shortly after birth. The deformities associated with Meckel syndrome do not support life, and as of 2011, there was no treatment available to prolong the life of the child.
A child born with Meckel syndrome tends to have an enlarged fontanel, or soft spot, on top of the head. This causes sacs called encephaloceles to develop on the brain and surrounding membranes. These sacs are filled with cerebrospinal fluid, the protective liquid that normally protects the brain and spinal cord from injury, and they can appear on any area of the head. This type of birth defect is often fatal, even when it does not accompany the other symptoms of Meckel syndrome. Shortened limbs and extra fingers or toes are also common in babies that have this disease.
Polycystic kidneys typically are seen in babies that have Meckel syndrome. This means that the kidneys are covered with dozens or even hundreds of fluid-filled cysts that can vary greatly in size. These cysts can overtake the healthy kidney tissue and cause so much damage that the kidneys are not able to filter enough waste materials from the blood to support the life of the patient. Kidney failure among newborns is almost always fatal.
The lungs and the liver usually are severely underdeveloped in babies who have Meckel syndrome. These deformities are often so severe that the newborn is unable to breathe independently after birth and is the chief reason that many babies who have this condition are stillborn. In some cases, there are obvious physical deformities involving the head and the face, although these abnormalities can vary considerably. Genetic counseling is recommended for parents who have had a child diagnosed with this condition, because it is possible that future children will develop the disease as well. It is often recommended that grief counseling or family therapy is considered for parents who have lost a child to this rare genetic disease.