Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome

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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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version July 2024

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