Isolated anencephaly/exencephaly
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Multigenic/multifactorial, Not applicable
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare neural tube defect characterized by the absence of cranial vault and brain structures. This lethal malformation is secondary to a failure to close the anterior neuropore during early embryonic development, leading to exencephaly (''open'' brain). The degeneration of the cerebral tissue is due to their exposure to the amniotic fluid and converts the exencephaly into anencephaly (absence of the brain).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated anencephaly/exencephaly | |
| fr | Anencéphalie/exencéphalie isolée | |
| de | Anenzephalie/Exenzephalie, isolierte | |
| es | Anencefalia/exencefalia aislada | |
| it | Anencefalia/exencefalia isolata | |
| nl | Geïsoleerde anencefalie/exencefalie | |
| pt | Anencefalia | |
| pl | Izolowana anencefalia/eksencefalia | |
| cs | Izolovaná anencefalie/exencefalie | |
| uk | Ізольована аненцефалія/екзенцефалія | |
| zh | 孤立型无脑回畸形/露脑畸形 | |
| tr | İzole anensefali / eksensefali |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 206500 | E | validated | |
| OMIM | 619452 | BTNT | validated | |
| ICD-10 | Q04.8 | NTBT | attributed | validated |
| ICD-11 | LA00.0 | BTNT | specific | validated |
| ICD-11 | LA00.Y | BTNT | attributed | validated |
| MONDO | 8791 | E | validated | |
| UMLS | C5680972 | E | validated | |
| GARD | 5808 | 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 (2):
- ORPHA:268843Malformation of the neurenteric canal, spinal cord and column
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases
Genes
0 direct · 4 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| MTHFR | ORPHA:563609Isolated anencephaly | Major susceptibility factor in | Assessed | HGNC:7436 | ENSG00000177000 | 607093 | 1p36.22 | methylenetetrahydrofolate reductase | 31424828[PMID] |
| MTHFR | ORPHA:563612Isolated exencephaly | Major susceptibility factor in | Assessed | HGNC:7436 | ENSG00000177000 | 607093 | 1p36.22 | methylenetetrahydrofolate reductase | 31516628[PMID] |
| VANGL2 | ORPHA:563609Isolated anencephaly | Major susceptibility factor in | Assessed | HGNC:15511 | ENSG00000162738 | 600533 | 1q23.2 | VANGL planar cell polarity protein 2 | 31424828[PMID] |
| VANGL2 | ORPHA:563612Isolated exencephaly | Major susceptibility factor in | Assessed | HGNC:15511 | ENSG00000162738 | 600533 | 1q23.2 | VANGL planar cell polarity protein 2 | 31516628[PMID] |
Prevalence and incidence
9 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-5 / 10 000 | 4.22 / 100 000 | Europe | Value and class | Validated | EUROCAT European surveillance of congenital anomalies [OTHER] _ORPHANET_[EXPERT] |
| Point prevalence | 1-9 / 1 000 000 | — | Europe | Class only | Validated | [EXPERT] |
| Prevalence at birth | 1-5 / 10 000 | 20.6 / 100 000 | United States | Value and class | Validated | 20878909[PMID]_Center for Diseases Control and Prevention 2004-2006[OTHER] |
| Prevalence at birth | >1 / 1000 | 210 / 100 000 | India | Value and class | Validated | 23873811[PMID] |
| Prevalence at birth | >1 / 1000 | 120 / 100 000 | Iran, Islamic Republic of | Value and class | Validated | 20039767[PMID] |
| Prevalence at birth | 1-5 / 10 000 | 58 / 100 000 | Singapore | Value and class | Validated | 17245510[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 5.1 / 100 000 | Worldwide | Value and class | Validated | 36253858[PMID] |
| Prevalence at birth | >1 / 1000 | 1.4 / 100 000 | Africa | Value and class | Validated | 34887455[PMID]_ORPHANET |
| Prevalence at birth | 6-9 / 10 000 | 8.6 / 100 000 | Australia | Value and class | Validated | 36253858[PMID] |
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
2 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002323 | Anencephaly | |
| HP:0008207 | Primary adrenal insufficiency | |
Run the differential on the 2 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1048
- This record as JSON: /data/d/1048.json