Hydrocephaly-cerebellar agenesis syndrome
historical
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Neonatal
- Status
- historical
A rare developmental defect during embryogenesis malformation syndrome characterized by congenital, non-communicating hydrocephalus, cerebellar agenesis and absence of the Luschka and Magendie foramina. Patients present with hypotonia, areflexia or hyporeflexia, seizures and/or cyanosis shortly after birth. The condition is fatal in the neonatal period. There have been no further descriptions in the literature since 1978.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hydrocephaly-cerebellar agenesis syndrome | |
| fr | Syndrome d'aplasie du cervelet-hydrocéphalie | |
| de | Hydrozephalus-Kleinhirn-Agenesie-Syndrom | |
| es | Síndrome de hidrocefalia-agenesia cerebelosa | |
| it | Sindrome da idrocefalo-agenesia del cervelletto | |
| nl | Hydrocefalie - cerebellaire agenesie-syndroom | |
| pt | Síndrome de hidrocefalia-agenesia cerebelosa | |
| pl | Zespół wodogłowia i agenezji móżdżku | Zespół wodogłowia, agenezji móżdżku i niepełnosprawności intelektualnej sprzężony z chromosomem X |
| cs | Syndrom zahrnující agenezi mozečku a hydrocefalus | |
| uk | Синдром гідроцефалії - мозочкової агенезії | |
| zh | 脑积水-小脑发育不全综合征 | |
| tr | Hidrosefali-serebellar agenezi sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 307010 | NTBT | validated | |
| ICD-10 | Q04.3 | NTBT | attributed | validated |
| MONDO | 0010612 | E | validated | |
| UMLS | C4274899 | E | validated | |
| GARD | 1200 | 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 (3):
- ORPHA:269567Genetic syndrome with a cerebellar malformation as a major feature
rare genetic diseases - ORPHA:269523Syndrome with a cerebellar malformation as a major feature
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:522548Syndromic genetic cataract
rare genetic 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 |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_657584[PMID] |
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 657584[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
5 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001251 | Ataxia | |
| HP:0000518 | Cataract | |
| HP:0012642 | Cerebellar agenesis | |
| HP:0001252 | Hypotonia | |
| HP:0001249 | Intellectual disability | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1397
- This record as JSON: /data/d/1397.json