Cerebellar hypoplasia-tapetoretinal degeneration syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Infancy
- Status
- active
Cerebellar hypoplasia-tapetoretinal degeneration syndrome is a rare syndrome with a cerebellar malformation as a major feature characterized by cerebellar hypoplasia, bilateral retinal pigmentary changes, intellectual disability that can range from mild to moderate and pronounced language development delay. It presents with early developmental delay, central and peripheral non-progressive visual impairment or asymptomatic retinal changes, hypotonia, non-progressive ataxia and nystagmus.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cerebellar hypoplasia-tapetoretinal degeneration syndrome | |
| fr | Syndrome d'hypoplasie cérébelleuse-dégénérescence tapéto-rétinienne | |
| de | Zerebelläre Hypoplasie-tapetoretinale Degeneration-Syndrom | |
| es | Síndrome de hipoplasia cerebelosa-degeneración tapetoretiniana | |
| it | Sindrome da ipoplasia cerebellare e degenerazione tapeto-retinica | |
| nl | Cerebellaire hypoplasie - tapetoretinale degeneratie-syndroom | |
| pt | Síndrome de hipoplasia cerebelosa-degenerescência tapetorretiniana | |
| pl | Hipolplazja móżdżku - zwyrodnienie tapetoretinalne (naczyniowo-siatkówkowe) | |
| cs | Syndrom zahrnující hypoplázii mozečku a tapetoretinální degeneraci | |
| uk | Синдром гіпоплазії мозочка-тапеторетинальної дегенерації | |
| zh | 小脑发育不良-毯层视网膜变性综合征 | |
| tr | Serebellar hipoplazi-tapetoretinal dejenerasyon sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 213000 | NTBT | validated | |
| ICD-10 | Q04.3 | NTBT | attributed | validated |
| ICD-11 | LD20.0Y | NTBT | index | validated |
| MONDO | 0016392 | E | validated | |
| UMLS | C4275139 | E | validated | |
| GARD | 1196 | 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:716405Rare disorder with progressive generalized retinal disorder as a major feature
rare ophthalmic disorders - ORPHA:269523Syndrome with a cerebellar malformation as a major feature
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 | 3 cases | Worldwide | Case(s) | Validated | 1622524[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_1622524[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
9 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000512 | Abnormal electroretinogram | |
| HP:0007703 | Abnormality of retinal pigmentation | |
| HP:0001251 | Ataxia | |
| HP:0001321 | Cerebellar hypoplasia | |
| HP:0100543 | Cognitive impairment | |
| HP:0001252 | Hypotonia | |
| HP:0000639 | Nystagmus | |
| HP:0000648 | Optic atrophy | |
| HP:0000505 | Visual impairment | |
Run the differential on the 9 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2246
- This record as JSON: /data/d/2246.json