sporadic fetal brain disruption sequence
Findings
No curated finding names sporadic fetal brain disruption sequence yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0015660), read 2026-09-29. CC BY 4.0.
Features
10 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Cerebral cortical atrophyHPOHP:0002120
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
- MicrocephalyHPOHP:0000252
- Very frequent (80% to 99% of cases)
- PlagiocephalyHPOHP:0001357
- Very frequent (80% to 99% of cases)
- Prominent occiputHPOHP:0000269
- Very frequent (80% to 99% of cases)
- Severe global developmental delayHPOHP:0011344
- Very frequent (80% to 99% of cases)
Where it sits
- A kind of
- Narrower terms (1)