Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome

Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome is a rare, genetic developmental defect during embryogenesis malformation syndrome characterized by intrauterine growth restriction, flexion arthrogryposis of all joints, severe microcephaly, renal cystic dysplasia/agenesis/hypoplasia and complex malformations of the brain (cerebral and cerebellar hypoplasia, vermis, corpus callosum and/or occipital lobe agenesis, with or without arhinencephaly), as well as of the genitourinary tract (ureteral agenesis/hypoplasia, uterine hypoplasia and/or vaginal atresia), leading to fetal demise.

Also known as: Meckel syndrome type 12, MKS12, Meckel syndrome 12

2 clinical trials for this condition and its sub-types, 0 tagged with Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome itself.