Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal
- Status
- active
A rare genetic lethal multiple congenital anomalies/dysmorphic syndrome characterized by mid-gestation lethality and features of a ciliopathy. Clinical manifestations include hydrocephalus, cerebellar vermis hypoplasia, corpus callosum agenesis, duodenal atresia, gastrointestinal malrotation, bilateral renal hypoplasia, and dysmorphic craniofacial features (such as microcephaly, hypertelorism, low-set ears, prominent nose, short columella, cleft palate, micrognathia, and wide mouth).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome | |
| fr | Syndrome de malformation cérébrale-atrésie duodénale-hypoplasie rénale bilatérale foetal létal | |
| de | Letale fetale Hirnfehlbildung-duodenale Atresie-bilaterale Nierenhypoplasie-Syndrom | |
| es | Síndrome de malformación cerebral fetal letal-atresia duodenal-hipoplasia renal bilateral | |
| it | Sindrome fetale letale malformazione cerebrale-atresia duodenale-ipoplasia renale bilaterale | |
| nl | Letale foetale hersenmalformatie - duodenale atresie - bilaterale renale hypoplasie-syndroom | |
| pt | Síndrome de malformação fetal cerebral fatal atrésia duodenal hipoplasia renal bilateral | |
| pl | Śmiertelny zespół malformacji mózgu, atrezji dwunastnicy i obustronnej hipoplazji nerek | |
| cs | Syndrom zahrnující letální fetální malformaci mozku, duodenální atrézii a bilaterální renální hypoplázii | |
| uk | Летальний синдром вади розвитку головного мозку плода-атрезії дванадцятипалої кишки - двосторонньої гіпоплазії нирок | |
| zh | 致死性胎儿脑发育不良-十二指肠闭锁-双侧肾发育不全综合征/Stromme综合症 | |
| tr | Ölümcül fetal beyin malformasyonu-duodenal atrezi-bilateral renal hipoplazi sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 243605 | ND | not yet validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| UMLS | C5681197 | 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:156162Renal ciliopathy
rare genetic diseases - ORPHA:93547Syndromic renal or urinary tract malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare renal diseases; rare transplant-related disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CENPF | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:1857 | ENSG00000117724 | 600236 | 1q41 | centromere protein F | 25564561[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 25564561[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25564561[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/444069
- This record as JSON: /data/d/444069.json