General Information of Disease (ID: DISMN6PG)

Disease Name Sporadic fetal brain disruption sequence
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.
Disease Hierarchy
DISEP2HK: Central and peripheral nervous disease
DISMN6PG: Sporadic fetal brain disruption sequence
Disease Identifiers
MONDO ID
MONDO_0015660
UMLS CUI
C4706553
MedGen ID
1636968
Orphanet ID
1665
SNOMED CT ID
763717004