ORPHA:1538
Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome
historical
Synonyms: Braddock-Jones-Superneau syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Status
- historical
A rare malformation disorder characterized by sagittal craniosynostosis, Dandy-Walker malformation, hydrocephalus, craniofacial dysmorphism (including dolichocephaly, hypertelorism, micrognathia, positional ear deformity) and variable developmental delay.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome | Braddock-Jones-Superneau syndrome |
| fr | Syndrome de craniosynostose-malformation de Dandy-Walker-hydrocéphalie | Syndrome de Braddock-Jones-Superneau |
| de | Kraniosynostose-Dandy-Walker-Fehlbildung-Hydrozephalus-Syndrom | Braddock-Jones-Superneau-Syndrom |
| es | Síndrome de craneosinostosis-malformación de Dandy-Walker-hidrocefalia | Síndrome de Braddock-Jones-Superneau |
| it | Craniosinostosi - malformazione di Dandy-Walker - idrocefalo | Sindrome di Braddock-Jones-Superneau |
| nl | Craniosynostose - Dandy-Walker malformatie - hydrocefalus-syndroom | Syndroom van Braddock-Jones-Superneau |
| pt | Síndrome de craniossinostose-malformação de Dandy-Walker-hidrocefalia | Síndrome Braddock-Jones-Superneau |
| pl | Kraniosynostoza - malformacja Dandy'ego i Walkera - wodogłowie | Zespół Braddocka, Jonesa i Superneau |
| cs | Syndrom zahrnující kraniosynostózu, Dandyho-Walkerovu malformaci a hydrocefalus | Braddockův-Jonesův-Supernauův syndrom · Syndrom zahrnující kraniosynostózu, Dandy-Walkerovu malformaci a hydrocefalus · Braddock-Jones-Supernauův syndrom |
| uk | Синдром краніосиностозу - мальформації Денді-Уокера - гідроцефалії | Синдром Бреддока-Джонса-Суперно |
| zh | 颅骨早闭-丹迪-沃克畸形-脑积水综合征 | Braddock-Jones-Superneau综合征 |
| tr | Kraniyosinostoz-Dandy-Walker malformasyonu-hidrosefali sendromu | Braddock-Jones-Superneau sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 123155 | E | validated | |
| ICD-10 | Q03.1 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0007401 | E | validated | |
| UMLS | C4304196 | E | validated | |
| GARD | 998 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:169163Familial scaphocephaly syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:269570Genetic syndrome with a Dandy-Walker malformation as a major feature
rare genetic diseases - ORPHA:269546Syndrome with a Dandy-Walker malformation as a major feature
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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HPO phenotypes
11 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001321 | Cerebellar hypoplasia | |
| HP:0001305 | Dandy-Walker malformation | |
| HP:0000268 | Dolichocephaly | |
| HP:0002007 | Frontal bossing | |
| HP:0000238 | Hydrocephalus | |
| HP:0000316 | Hypertelorism | |
| HP:0000347 | Micrognathia | |
| HP:0000648 | Optic atrophy | |
| HP:0005472 | Orbital craniosynostosis | |
| Frequent (79-30%) | ||
| HP:0001249 | Intellectual disability | |
| HP:0000486 | Strabismus | |
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1538
- This record as JSON: /data/d/1538.json