Isolated unilateral hemispheric cerebellar hypoplasia/dysplasia
- Type
- Morphological anomaly
- Group
- Disorder
- Age of onset
- Infancy, Neonatal
- Status
- active
Isolated unilateral hemispheric cerebellar hypoplasia is a rare, non-syndromic cerebellar malformation characterized by loss of volume in the right or left cerebellar hemisphere, with intact vermis and no other neurological anomalies (i.e. normal cerebral hemispheres, fourth ventricle, pons, medulla and midbrain). Patients may be asymptomatic or may present developmental and speech delay, hypotonia, abnormal ocular movements, persistent headaches and/or peripheral vertigo and ataxia. Neurological examination is otherwise normal.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated unilateral hemispheric cerebellar hypoplasia/dysplasia | |
| fr | Hypoplasie/dysplasie isolée unilatérale des hémisphères cérébelleux | |
| de | Isolierte unilaterale hemisphärische zerebelläre Hypoplasie/Dysplasie | Isolierte unilaterale hemisphärische Kleinhirnhypoplasie |
| es | Hipoplasia/displasia aislada unilateral de los hemisferios cerebelosos | |
| it | Ipoplasia/displasia isolata monolaterale dell'emisfero cerebellare | |
| nl | Geïsoleerde unilaterale hypoplasie/dysplasie van cerebellaire hemisfeer | Geïsoleerde unilaterale hypoplasie/dysplasie van kleinehersenhelft |
| pt | Hipoplasia dos hemisférios cerebelosos unilateral isolada | |
| pl | Izolowana jednostronna hipoplazja móżdżku | |
| cs | Izolovaná unilaterální hemisferická mozečková hypoplázie | |
| uk | Ізольована однобічна гіпоплазія півкуль мозочка | |
| zh | 孤立性单侧小脑半球发育不全 | |
| tr | İzole unilateral hemisferik serebellar hipoplazi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q04.3 | NTBT | attributed | validated |
| ICD-11 | LA06.1 | NTBT | index | validated |
| MONDO | 0017112 | E | validated | |
| UMLS | C4707885 | 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:98516Malformation of the cerebellar hemispheres
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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/269218
- This record as JSON: /data/d/269218.json