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 (occipital encephalocele), polydactyly (post axial), hepatic developmental defects, and pulmonary hypoplasia due to oligohydramnios . Meckel–Gruber syndrome is named for Johann Meckel and Georg Gruber. [1][2][3] Diagnosis Dysplastic kidneys are prevalent in over 95% 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. [ citation needed] Occipital encephalocele is present in 60% to 80% of all cases, and post-axial polydactyly is present in 55% to 75% of the total number of identified cases. Bowing or shortening of the limbs are also common.[ citation needed ] Finding at least two of the three phenotypic features of the classical triad, in the presence of normal karyotype , makes the diagnosis solid. Regular ultrasounds and pro-active prenatal care can usually detect symptoms early on in a pregnancy
Posted on: Fri, 12 Dec 2014 07:37:37 +0000
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