Hydranencephaly
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive, Unknown
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare cerebral malformation characterized by an almost or complete lack of cortex, specifically the cerebral hemispheres, with the cranium and meninges completely intact. In most cases, death occurs in utero or in the first weeks of life. Developmental delay, drug-resistant seizures, spastic diplegia, severe growth failure, deafness and blindness are typical.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hydranencephaly | |
| fr | Hydranencéphalie | |
| de | Hydranenzephalie | |
| es | Hidranencefalia | |
| it | Idranencefalia | |
| nl | Hydranencefalie | |
| pt | Hidranencefalia | |
| pl | Hydranencefalia | |
| cs | Hydranencefalie | |
| uk | Гідраненцефалія | |
| zh | 积水型无脑畸形 | |
| tr | Hidranensefali |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 605013 | NTBT | validated | |
| ICD-10 | Q04.3 | NTBT | inclusion | validated |
| ICD-11 | LA05.62 | E | specific | validated |
| MONDO | 0016344 | E | validated | |
| MeSH | D006832 | E | validated | |
| UMLS | C0020225 | E | validated | |
| GARD | 6681 | E | validated | |
| MedDRA | 10073472 | 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:269190Encephaloclastic disorder
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| NDE1 | Disease-causing germline mutation(s) in | Assessed | HGNC:17619 | ENSG00000072864 | 609449 | 16p13.11 | nudE neurodevelopment protein 1 | 22526350[PMID] |
Prevalence and incidence
4 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | — | Worldwide | Class only | Validated | 10207424[PMID] |
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
| Prevalence at birth | 1-9 / 100 000 | 2.1 / 100 000 | Japan | Value and class | Validated | 26545857[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 2.8 / 100 000 | United States | Value and class | Validated | 18383510[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
28 annotations · validated 2024-07-09| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0010994 | Abnormal corpus striatum morphology | |
| HP:0000618 | Blindness | |
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0001263 | Global developmental delay | |
| HP:0008610 | Infantile sensorineural hearing impairment | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0008897 | Postnatal growth retardation | |
| Frequent (79-30%) | ||
| HP:0009145 | Abnormal cerebral artery morphology | |
| HP:0010652 | Abnormal dura mater morphology | |
| HP:3000062 | Abnormal internal carotid artery morphology | |
| HP:0011328 | Abnormality of fontanelles | |
| HP:0007023 | Antenatal intracerebral hemorrhage | |
| HP:0410279 | Atrophic pituitary gland | |
| HP:0006698 | Dilatation of the ventricular cavity | |
| HP:0025099 | Dysgenesis of the thalamus | |
| HP:0025517 | Hypoplastic hippocampus | |
| HP:0000601 | Hypotelorism | |
| HP:0001254 | Lethargy | |
| HP:0001287 | Meningitis | |
| HP:0002179 | Opisthotonus | |
| HP:0001250 | Seizure | |
| HP:0001264 | Spastic diplegia | |
| HP:0025258 | Stiff neck | |
| HP:0025040 | Thalamic edema | |
| Occasional (29-5%) | ||
| HP:0000533 | Chorioretinal atrophy | |
| HP:0000609 | Optic nerve hypoplasia | |
| HP:0011451 | Primary microcephaly | |
| HP:0002119 | Ventriculomegaly | |
Run the differential on the 7 obligate / very frequent terms
Annotation source: 12858931[PMID]_23337012[PMID]_6075814[PMID]_18201820[PMID]_23632619[PMID]_27876178[PMID]_25326191[PMID]_22610272[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2177
- This record as JSON: /data/d/2177.json