ORPHA:1174
Cerebellar ataxia-ectodermal dysplasia syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A rare syndromic cerebellar ataxia characterized by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates a cerebellar atrophy.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cerebellar ataxia-ectodermal dysplasia syndrome | |
| fr | Syndrome d'ataxie cérébelleuse-dysplasie ectodermique | |
| de | Zerebelläre Ataxie-Ektodermale Dysplasie-Syndrom | |
| es | Síndrome de ataxia cerebelosa-displasia ectodérmica | |
| it | Atassia cerebellare - displasia ectodermica | |
| nl | Cerebellaire ataxie - ectodermale dysplasie-syndroom | |
| pt | Síndrome de ataxia cerebelosa-displasia ectodérmica | |
| pl | Ataksja móżdżkowa - dysplazja ektodermalna | |
| cs | Syndrom zahrnující cerebelární ataxii a ektodermální dysplázii | |
| uk | Синдром мозочкової атаксії-ектодермальної дисплазії | |
| zh | 小脑共济失调-外胚层发育不良综合征 | |
| tr | Serebellar ataksi-ektodermal displazi sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 212835 | E | validated | |
| ICD-10 | G11.1 | NTBT | attributed | validated |
| ICD-11 | LD27.0Y | NTBT | index | validated |
| MONDO | 0008934 | E | validated | |
| MeSH | C535350 | E | validated | |
| UMLS | C1859306 | E | validated | |
| GARD | 1189 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:79373Ectodermal dysplasia syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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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.
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HPO phenotypes
12 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001251 | Ataxia | |
| HP:0002213 | Fine hair | |
| HP:0001288 | Gait disturbance | |
| HP:0000668 | Hypodontia | |
| HP:0000691 | Microdontia | |
| HP:0008070 | Sparse hair | |
| HP:0000325 | Triangular face | |
| Frequent (79-30%) | ||
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0000337 | Broad forehead | |
| HP:0000028 | Cryptorchidism | |
| HP:0000023 | Inguinal hernia | |
| HP:0001761 | Pes cavus | |
Run the differential on the 7 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1174
- This record as JSON: /data/d/1174.json