Congenital hydrocephalus
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Antenatal
- Status
- active
A rare central nervous system malformation characterized by abnormally enlarged cerebral ventricles due to impaired cerebrospinal fluid circulation. It arises in utero and can be either acquired or inherited. The severity of the resulting brain damage depends on the duration and extent of ventriculomegaly.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital hydrocephalus | |
| fr | Hydrocéphalie congénitale | |
| de | Hydrozephalus, kongenitaler | |
| es | Hidrocefalia congénita | |
| it | Idrocefalo congenito | |
| nl | Congenitale hydrocefalie | Aangeboren waterhoofd · Congenitale hydrocefalus |
| pt | Hidrocefalia congénita | |
| pl | Wodogłowie wrodzone | |
| cs | Vrozený hydrocefalus | |
| uk | Вроджена гідроцефалія | |
| zh | 先天性脑积水 | |
| tr | Doğumsal hidrosefali |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 236600 | BTNT | validated | |
| OMIM | 615219 | BTNT | validated | |
| OMIM | 617967 | BTNT | validated | |
| OMIM | 618570 | BTNT | validated | |
| ICD-10 | Q03.0 | BTNT | specific | validated |
| ICD-10 | Q03.1 | BTNT | specific | validated |
| ICD-10 | Q03.8 | BTNT | specific | validated |
| ICD-10 | Q03.9 | BTNT | specific | validated |
| ICD-11 | LA04 | E | specific | validated |
| MONDO | 0016349 | E | validated | |
| UMLS | C0020256 | E | validated | |
| GARD | 6682 | E | validated | |
| MedDRA | 10010506 | 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:98044Central nervous system malformation
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:183506Genetic central nervous system malformation
rare genetic diseases
Genes
0 direct · 5 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| CCDC88C | ORPHA:269510Congenital non-communicating hydrocephalus | Disease-causing germline mutation(s) in | Assessed | HGNC:19967 | ENSG00000015133 | 611204 | 14q32.11-q32.12 | coiled-coil and HOOK domain protein 88C | 21031079[PMID]_23042809[PMID] |
| MPDZ | ORPHA:269505Congenital communicating hydrocephalus | Disease-causing germline mutation(s) in | Assessed | HGNC:7208 | ENSG00000107186 | 603785 | 9p23 | multiple PDZ domain crumbs cell polarity complex component | 23240096[PMID] |
| TRIM71 | ORPHA:269505Congenital communicating hydrocephalus | Disease-causing germline mutation(s) in | Assessed | HGNC:32669 | ENSG00000206557 | 618570 | 3p22.3 | tripartite motif containing 71 | 29983323[PMID] |
| WDR81 | ORPHA:269505Congenital communicating hydrocephalus | Disease-causing germline mutation(s) in | Assessed | HGNC:26600 | ENSG00000167716 | 614218 | 17p13.3 | WD repeat domain 81 | 28556411[PMID] |
| WDR81 | ORPHA:269510Congenital non-communicating hydrocephalus | Disease-causing germline mutation(s) in | Assessed | HGNC:26600 | ENSG00000167716 | 614218 | 17p13.3 | WD repeat domain 81 | 28556411[PMID] |
Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 6-9 / 10 000 | 59 / 100 000 | United States | Value and class | Validated | 21763944[PMID] |
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
| Prevalence at birth | 1-5 / 10 000 | 46.5 / 100 000 | Europe | Value and class | Validated | 19410489[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
21 annotations · validated 2019-06-12| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000238 | Hydrocephalus | |
| Frequent (79-30%) | ||
| HP:0002536 | Abnormal cortical gyration | |
| HP:0000414 | Bulbous nose | |
| HP:0030048 | Colpocephaly | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0000324 | Facial asymmetry | |
| HP:0002007 | Frontal bossing | |
| HP:0001249 | Intellectual disability | |
| HP:0000612 | Iris coloboma | |
| HP:0000256 | Macrocephaly | |
| HP:0001270 | Motor delay | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0001250 | Seizure | |
| HP:0002472 | Small cerebral cortex | |
| HP:0000486 | Strabismus | |
| HP:0002119 | Ventriculomegaly | |
| Very rare (<4-1%) | ||
| HP:0001627 | Abnormal heart morphology | |
| HP:0001339 | Lissencephaly | |
| HP:0001104 | Macular hypoplasia | |
| HP:0000648 | Optic atrophy | |
| HP:0000407 | Sensorineural hearing impairment | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 29225145[PMID]_28556411[PMID]_23240096[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2185
- This record as JSON: /data/d/2185.json