Meckel Syndrome
Lethal, Ciliopathy, Genetic disorder
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Please note that the content of this book primarily consists of articles available from Wikipedia or other free sources online. Meckel syndrome (also known as Meckel Gruber Syndrome, Gruber Syndrome, Dysencephalia Splanchnocystica) is a rare, lethal, ciliopathic, genetic disorder, characterized by renal cystic dysplasia, central nervous system malformations, polydactyly, hepatic developmental defects, and pulmonary hypoplasia due to oligohydramnios.Meckel-Gruber syndrome is named for Johann Meckel and Georg Gruber.Dysplastic kidneys are prevalent in 95% to 100% of all identified cases. When th...
Please note that the content of this book primarily consists of articles available from Wikipedia or other free sources online. Meckel syndrome (also known as Meckel Gruber Syndrome, Gruber Syndrome, Dysencephalia Splanchnocystica) is a rare, lethal, ciliopathic, genetic disorder, characterized by renal cystic dysplasia, central nervous system malformations, polydactyly, hepatic developmental defects, and pulmonary hypoplasia due to oligohydramnios.Meckel-Gruber syndrome is named for Johann Meckel and Georg Gruber.Dysplastic kidneys are prevalent in 95% to 100% of all identified cases. When this occurs, microscopic cysts develop within the kidney and slowly destroy it, causing it to enlarge to 10 to 20 times its original size. The level of amniotic fluid within the womb may be significantly altered or remain normal, and a normal level of fluid should not be criteria for exclusion of diagnosis.
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