Isolated cerebellar agenesis
Synonyms: Near total absence of cerebellum · Subtotal absence of cerebellum
- Type
- Morphological anomaly
- Group
- Disorder
- Age of onset
- Childhood
- Status
- active
A rare non-syndromic central nervous system malformation characterized by complete or near-complete absence of the cerebellum with a normal sized posterior fossa, possibly accompanied by hypoplasia of the brainstem. The clinical picture is highly variable, but typically includes ataxia, dysarthria, tremor, dysmetria, dysdiadochokinesia, and oculomotor abnormalities, in addition to impaired mental, motor, and language development and intellectual disability.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated cerebellar agenesis | Near total absence of cerebellum · Subtotal absence of cerebellum |
| fr | Agénésie isolée du cervelet | Hypoplasie/agénésie isolée cérébelleuse |
| de | Isolierte zerebelläre Agenesie | Chiari-Malformation Typ 4 · Chiari-Malformation Typ IV · Fast vollständiges Fehlen des Zerebellums · Subtotales Fehlen des Zerebellums |
| es | Agenesia cerebelosa aislada | Ausencia casi total del cerebelo · Ausencia subtotal del cerebelo |
| it | Agenesia isolata del cervelletto | |
| nl | Geïsoleerde cerebellaire agenesie | Bijna volledige afwezigheid van cerebellum · Geïsoleerde agenesie van kleine hersenen · Subtotale afwezigheid van cerebellum |
| pt | Agenesia cerebelosa isolada | Hipoplasia cerebelosa |
| pl | Izolowana agenezja móżdżku | = en |
| cs | Izolovaná hypoplázie/ageneze mozečku | = en |
| uk | Ізольована агенезія мозочка | Майже повна відсутність мозочка · Повна відсутність мозочка |
| zh | 孤立型小脑发育不全 | 大部分小脑缺如 |
| tr | İzole serebellar agenez | Serebellumun subtotal yokluğu · Serebellumun neredeyse total yokluğu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q04.3 | NTBT | attributed | validated |
| UMLS | C0344488 | E | validated | |
| MedDRA | 10008033 | 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:269224Global cerebellar malformation
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | 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:0000496 | Abnormality of eye movement | |
| HP:0001251 | Ataxia | |
| HP:0001252 | Hypotonia | |
| Frequent (79-30%) | ||
| HP:0100022 | Abnormality of movement | |
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0000708 | Atypical behavior | |
| HP:0001276 | Hypertonia | |
| HP:0000256 | Macrocephaly | |
| HP:0000252 | Microcephaly | |
| HP:0001250 | Seizure | |
Run the differential on the 3 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1398
- This record as JSON: /data/d/1398.json