Alternative titles and symbols : Meckel-gruber syndrome, type 2;
Description : Meckel syndrome is a rare autosomal recessive lethal condition characterized by an
occipital meningoencephalocele, enlarged kidneys with multicystic dysplasia and fibrotic
changes in the portal area of the liver and with ductal proliferation, and postaxial
polydactyly. For a more complete phenotypic description and information on genetic
heterogeneity, see MKS1 (249000).;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutation in the transmembrane protein 216 gene (TMEM216, 613277.0002);