Aprosencephaly cerebellar dysgenesis
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal
- Status
- active
A rare genetic non-syndromic central nervous system malformation characterized by absence of the telencephalon and absent or abnormal diencephalic structures, combined with severe abnormalities of the mesencephalon and cerebellum. Further malformations, for example of the hands and feet, have been described in addition.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Aprosencephaly cerebellar dysgenesis | |
| fr | Syndrome d'aprosencéphalie-dysgénésie cérébelleuse | |
| de | Aprosenzephalie mit zerebellärer Dysgenesie | |
| es | Aprosencefalia - disgenesia cerebelosa | |
| it | Aprosencefalia - disgenesia cerebellare | |
| nl | Aprosencefalie cerebellaire dysgenesie | |
| pt | Aprosencefalia-disgenesia cerebelosa | |
| pl | Aprosencefalia dysgenezja móżdżku | |
| cs | Aprosencefalie - cerebelární dysgeneze | |
| uk | Апрозенцефалія з дизгенезією мозочка | |
| zh | 脑前部缺无合并小脑发育不全 | |
| tr | Aprosensefali serebellar disgenezi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601374 | E | validated | |
| ICD-10 | Q04.3 | NTBT | attributed | validated |
| ICD-11 | LA05.Y | NTBT | attributed | validated |
| MONDO | 0011062 | E | validated | |
| MeSH | C563331 | E | validated | |
| UMLS | C1832412 | 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:268926Midline cerebral malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; 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 | 2 cases | Worldwide | Case(s) | Validated | 8826432[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_8826432[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1126
- This record as JSON: /data/d/1126.json