Definition:
By definition Meckel syndrome is also known as Meckel-Gruber Syndrome, Gruber Syndrome, Dysencephalia Splanchnocystica and is an extremely rare and often lethal genetic disorder; it is so rare that estimates for rates of incidence is about .02 for every 10,000 births. The country of Finland has the most number of cases with the incidence as high as 1.1 per 10,000 births.
Diagnosis:
Diagnosis usually zeroes in on whether the patient has Dysplastic kidneys which occur 95 to 100% in all identified cases who have the disorder. The diagnosis will try to see if there are microscopic cysts develop within the kidney. In fetal analysis, testing is also normally done on the level of amniotic fluid within the womb.
Treatment:
Treatment of the disorder is normally directed towards specific symptoms manifested by patients.
Symptoms and Signs:
Typical symptoms include renal cystic dysplasia, malformations of the central nervous system and the developmental of hepatic defects. In almost 60% to up to 80% of all cases, there is the presence of Occipital Cepholocele. A small number- 55% of all cases exhibit post-axial polydactyly. There is also the shortening of the limbs in a majority of cases.
Causes:
The syndrome is classified as an autosomal recessive lethal malformation; studies of the genes involved MKS1 and MKS3 have mapped out their cellular, sub-cellular and functional characteristics which could lead significant inroads towards understanding them why they malfunction which causes the disorder.
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