Definition:
Meckel-Gruber syndrome is a genetic defect in which the affected infant has an enlarged “soft spot” that allows some brain fluid to leak out.
Diagnosis:
The disease can be diagnosed based on ultrasound results during pregancy.
Treatment:
There is no treatment yet for the disease; infants with this condition are either stillborn or die immediately after birth.
Symptoms and Signs:
Apart from the deformed soft spot, other symptoms of the disease include cysts in the kidneys, extra fingers or toes, and underdeveloped organs such as the lungs and liver.
Causes:
The disease is caused by a genetic mutation present in the chromosomes of both parents.
