Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome

Get in touch with RARE Concierge.

Contact RARE Concierge

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.

Newly diagnosed with
Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Advocacy Organizations

Clinical Trials

For a list of clinical trials in this disease area, please click here.