Lethal hydranencephaly-diaphragmatic hernia syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
Lethal hydranencephaly-diaphragmatic hernia syndrome is a rare, genetic, lethal, multiple congenital anomalies syndrome characterized by hydranencephaly and diaphragmatic hernia, as well as macrocephaly, a widely open anterior fontanel, scaphoid abdomen and hypotonia. Additionally, congenital heart defects, polyhydramnios and pulmonary hypertension have also been associated.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Lethal hydranencephaly-diaphragmatic hernia syndrome | |
| fr | Syndrome d'hydranencéphalie-hernie diaphragmatique létale | |
| de | Letale Hydranenzephalie-Zwerchfellhernie-Syndrom | |
| es | Síndrome letal de hidranencefalia-hernia diafragmática | |
| it | Sindrome letale da idranencefalia ed ernia diaframmatica | |
| nl | Letaal hydranencefalie - hernia diaphragmatica-syndroom | |
| pt | Síndrome letal de hidranencefalia-hérnia diafragmática | |
| pl | Śmiertelny zespół wodogłowia i przepukliny przepony | |
| cs | Syndrom zahrnující hydranencefalus a brániční syndrom, letální typ | |
| uk | Летальний синдром гідроенцефалії-діафрагмальної грижі | |
| zh | 致死性积水性无脑畸形-膈疝 | |
| tr | Primer hidranensefali-diyafragmatik herni sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD20.Y | NTBT | attributed | validated |
| MONDO | 0018810 | E | validated | |
| UMLS | C5567527 | 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 (6):
- ORPHA:471383Genetic lethal multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases - ORPHA:269564Genetic syndrome with a central nervous system malformation as a major feature
rare genetic diseases - ORPHA:459787Lethal multiple congenital anomalies/dysmorphic syndrome
rare developmental anomalies during embryogenesis - ORPHA:269531Other syndrome with a central nervous system malformation as a major feature
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:108979Syndromic diaphragmatic or abdominal wall malformation
rare developmental anomalies during embryogenesis; rare abdominal surgical diseases - ORPHA:180779Syndromic diaphragmatic or thoracic malformation
rare surgical thoracic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PLAT | Disease-causing germline mutation(s) in | Assessed | HGNC:9051 | ENSG00000104368 | 173370 | 8p11.21 | plasminogen activator, tissue type | 27417437[PMID]_6401391[PMID]_665314[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_27417437[PMID] |
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 27417437[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/480528
- This record as JSON: /data/d/480528.json