Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome

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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.

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 May 2024

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Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome?

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Advocacy Organizations

ZC4H2 Research Foundation

Our Mission: The purpose of the ZC4H2 Research Foundation is to support the development of viable therapies and standards of clinical care for the treatment of ZC4H2 Associated Rare Disorders (ZARD), and to be an information and support network for the ZARD community. We advocate through research, awareness, and support. For more information, please visit https://www.zc4h2foundation.org.

Clinical Trials

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