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Sporadic fetal brain disruption sequence

Disease definition

Sporadic fetal brain disruption sequence is a rare, non-syndromic, central nervous system malformation disorder characterized by severe microcephaly (average occipitofrontal circumference -5.8 SD), overlapping sutures, keel-like occipital bone prominence, scalp rugae with normal hair pattern and signs of neurological impairment. Brain imaging may show ventriculomegaly, cortical tissue deficit, and hydranencephaly.

ORPHA:1665

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: -
  • Inheritance: Not applicable 
  • Age of onset: Antenatal
  • ICD-10: Q02
  • OMIM: -
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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