Meckel-Gruber Syndrome

“Meckel syndrome is a rare inherited disorder characterized by abnormalities affecting several organ systems of the body. Three classic symptoms are normally associated with Meckel syndrome: protrusion of a portion of the brain and its surrounding membranes (meninges) through a defect in the back of the skull (occipital encephalocele), multiple cysts on the kidneys (cystic kidneys), and extra fingers and/or toes (polydactyly). Affected children or fetuses may also have abnormalities affecting the head and face (craniofacial area), liver, lungs, heart, and genitourinary tract. The lack of amniotic fluid surrounding the fetus (oligohydramnios) induces incomplete development of the lungs (pulmonary hypoplasia).

Because of these serious health problems, infants born with Meckel syndrome do not survive longer than a few days or weeks. Most affected infants die of kidney failure or respiratory problems. Parents sometimes choose to terminate a pregnancy when a fetus with Meckle syndrome is diagnosed during pregnancy.

Meckel syndrome is inherited as an autosomal recessive condition through thirteen genes: B9D1, B9D2, CC2D2A, CEP290, MKS1, RPGRIP1L, TCTN2, TCTN3, TMEM67, TMEM107, TMEM216, TMEM231 and TMEM237.” Read More


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