Description, Causes and Risk Factors:
Meckel-Gruber Syndrome is an autosomal recessive disease characterized by occipital encephalocele, cystic Kidneys and polydactyly. Other frequently associated anomalies include congenital hepatic fibrosis and hepatic cysts, and abnormal genitalia (cryptorchidism). The disease is invariably fatal at birth due to pulmonary hypoplasia and renal failure.
Incidence of Meckel-Gruber syndrome is 1:140,000 to 1:13,250, more common among Yemenite Jews. Risk of recurrence is 25% and carrier frequency is 1:56. History of affected siblings may be there. Parent consanguinity has been reported which supports evidence for autosomal recessive inheritance of this disorder. Mo consistent abnormality in Meckel's syndrome is renal dysplasia. Renal cysts are frequently large and the probably originate from the collecting ducts.
Autosomal recessive inheritance is well confirmed and the gene locus has been mapped to chromosome 17q21-24 by genome wide linkage study. The locus was later refined to within a less than 1 cM region (17q22), in which most of the Finnish MKS patients share a common chromosomal haplotype suggesting one major and relatively old mutation. However, in most of the non-Finnish MKS families studied, this linkage could not be confirmed. The linkage studies provide evidence that more than one locus is involved in bringing about the combination of CNS malformations, cystic kidneys, and polydactyly, maybe even in typical cases of MKS.
Genetics: MKS exhibits autosomal recessive inheritance. To date, five MKS genes have been identified (MKS1, TMEM67/MKS3, CC2D2A, RPGRIP1L and CEP290). The MKS1 gene encodes the Meckel syndrome type 1 protein (MKS1), which is predicted to have a role in ciliogenesis and renal tubulogenesis
Common symptoms of the disorder include a large soft spot with a bulging brain and spinal fluid and polydactyly (extra fingers and toes). The disorder also causes cysts to form in the kidneys, which will lead to large kidneys that do not function properly. In the majority of cases, the liver and lungs do not develop properly during fetal development, which will lead to breathing complications.
Alpha-fetoprotein (AFP) level from either maternal blood or amniotic fluid may help to detect an encephalocele in patients with Meckel-Gruber syndrome . AFP can be measured in amniotic fluid after about 12 weeks' gestation and in maternal blood after about 15 weeks' gestation.
Chromosome analysis is essential to exclude trisomy 13, which Meckel-Gruber syndrome mimics. Trisomy 13 carries a 1% recurrence risk, as opposed to the 25% recurrence rate for Meckel-Gruber syndrome. Linkage or mutation analysis is not yet available.
If anomalies are detected early in the first trimester, chorionic villus sampling (CVS) can be performed at 10-12 weeks' gestation or later in pregnancy if oligohydramnios does not permit amniocentesis.
Cardiac repair or neurosurgical intervention for encephalocele may be warranted in patients with Meckel-Gruber syndrome. Airway establishment may be difficult; thus, follow the guidelines provided by the American Society of Anesthesiologists.
NOTE: The above information is educational purpose. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition.
DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.
A new study from Brazil suggests that trendy intermittent fasting may be the reason for increasing insulin levels and the amount of abdominal fat. It also may lead to the damage of pancreatic cells. Intermittent fasting diet is a diet when a dieting person has “fast”...
It is well known that our overall health and wellbeing are totally dependable on what we eat. That is why a healthy diet plays a significant role in keeping the body healthy. Day after day, scientists all over the world make new discoveries proving that certain...
Quiz about this article
0 of 2 questions completed
Please answer on few questions to make our service more useful
You have already completed the quiz before. Hence you can not start it again.
Quiz is loading...
You must sign in or sign up to start the quiz.
You have to finish following quiz, to start this quiz:
0 of 2 questions answered correctly
Time has elapsed
You have reached 0 of 0 points, (0)
Question 1 of 2
Was this article useful for you?Correct
Thanks for your feedback!Incorrect
Thanks for your feedback!
Question 2 of 2
What else information about this disease you want to know ?Correct
Thanks for feedback!Incorrect
Thanks for feedback!
Good weather is the best reason to do outdoor sports, which will help not only lose weight, but also will strengthen health. Bicycle The sun dries out the local paths, so you can safely sit on your favorite bike and confidently twist the pedals, where the eyes look....read more
First aid for injuries consists of simple rules that need to be clearly implemented. If this is a closed injury, you need to immobilize the injured limb, otherwise the person may lose consciousness from a painful shock. If you need to get to the emergency room...read more
Many people spontaneously decide starting to do sport, while others weigh all the pros and cons for a log time. But almost all of them make the same mistakes, listening to the advice of non experts. There are 10 anti-tips for those who want to do plan to do some sport...read more