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 September 2023.
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Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome?
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Advocacy Organizations
ZC4H2 Research Foundation
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 for the ZARD community through: Research, Awareness, and Support.
ZC4H2 Research Foundation
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 for the ZARD community through: Research, Awareness, and Support.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Help Hope Live
Help Hope Live assists individuals living with catastrophic injuries and illnesses to fundraise toward their medical expenses and related costs.
Moonshots for Unicorns
Curing single-gene disorders
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Clinical Trials
For a list of clinical trials in this disease area, please click here.