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

Disease definition

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).

ORPHA:444069

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Antenatal
  • ICD-10: Q87.8
  • OMIM: 243605  616369
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

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