Sporadic fetal brain disruption sequence
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Antenatal
- Status
- active
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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Sporadic fetal brain disruption sequence | |
| fr | Syndrome de destruction du cerveau foetal sporadique | |
| de | Sporadische Fetal-brain-disruption-Sequenz | Hirnfehlbildung, fetale komplexe sporadische |
| es | Secuencia disruptiva del cerebro fetal esporádica | |
| it | Sequenza sporadica da distruzione del cervello fetale | |
| nl | Sporadische foetale hersendisruptiesequentie | |
| pt | Sequência de disrupção cerebral fetal esporádica | |
| pl | Sporadyczna sekwencja dysrupcji mózgu u płodu | |
| cs | Sekvence sporadické fetální mozkové disrupce | |
| uk | Послідовність спорадичних порушень розвитку мозку плода | |
| zh | 散发性胎儿大脑受损序列 | |
| tr | Sporadik fetal beyin hasar dizisi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q02 | NTBT | attributed | validated |
| MONDO | 0015660 | E | validated | |
| UMLS | C4706553 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:199633Non-syndromic cerebral malformation
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 20 cases | Worldwide | Case(s) | Validated | 11760023[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 11760023[PMID]_ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
10 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0006887 | Intellectual disability, progressive | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0000252 | Microcephaly | |
| HP:0001357 | Plagiocephaly | |
| HP:0000269 | Prominent occiput | |
| HP:0011344 | Severe global developmental delay | |
| HP:0001257 | Spasticity | |
| Occasional (29-5%) | ||
| HP:0000834 | Abnormality of the adrenal glands | |
| HP:0010515 | Aplasia/Hypoplasia of the thymus | |
Run the differential on the 8 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1665
- This record as JSON: /data/d/1665.json