Meckel-Gruber syndrome is a lethal, autosomal-recessive disorder classically defined by the triad of large polycystic kidneys (multiple cysts on the kidneys), occipital encephalocele (protrusion of a portion of the brain and its surrounding membranes through a defect in the back or front of the skull), and postaxial polydactyly. Affected children may also have abnormalities affecting the head and face, liver, lungs, and genitourinary tract. The leading cause of death in Meckel-Gruber syndrome is pulmonary hypoplasia (underdevelopment of the lungs) which results from oligohydramnios (having too little amniotic fluid) which is caused by kidneys which have failed to develop properly.
A new study offers a better understanding of the properties of important proteins found inside the ciliary membrane.
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