Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome
A rare genetic lethal multiple congenital anomalies/dysmorphic syndrome characterized by mid-gestation lethality and features of a ciliopathy. Clinical manifestations include hydrocephalus cerebellar vermis hypoplasia corpus callosum agenesis duodenal atresia gastrointestinal malrotation bilateral renal hypoplasia and dysmorphic craniofacial features (such as microcephaly hypertelorism low-set ears prominent nose short columella cleft palate micrognathia and wide mouth).
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 brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome?
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Advocacy Organizations
Help Hope Live
Help Hope Live assists individuals living with catastrophic injuries and illnesses to fundraise toward their medical expenses and related costs.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
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
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