Warsaw breakage syndrome
Synonyms: WABS
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by pre- and postnatal growth restriction, microcephaly, mild to severe intellectual disability, sensorineural hearing loss with cochlear abnormalities, and facial dysmorphism (with small and elongated face, bifrontal narrowing, epicanthus, short nose, small nares, dysplastic ears, and short neck). Additional variable features include limb malformations, cardiac anomalies, abnormal skin pigmentation, and recurrent infections, among others.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Warsaw breakage syndrome | WABS |
| fr | Syndrome de cassure chromosomique de Varsovie | = en |
| de | Warsaw-Breakage-Syndrom | = en |
| es | Síndrome de rotura cromosómica de Varsovia | = en |
| it | Sindrome da rotture cromosomiche di Varsavia | = en |
| nl | Warschau-breuksyndroom | = en |
| pt | Síndrome de quebras de Varsóvia | = en |
| pl | Zespół Warszawa/Warsaw | = en |
| cs | Varšavský syndrom chromozomální instability | = en |
| uk | Варшавський синдром | = en |
| zh | WARSAW破损综合症 | = en |
| tr | Varşova kırık sendromu | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613398 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0013252 | E | validated | |
| UMLS | C3150658 | E | validated | |
| GARD | 13708 | 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 (3):
- ORPHA:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis - ORPHA:183422Polymalformative genetic syndrome with increased risk of developing cancer
rare genetic diseases; rare neoplastic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DDX11 | Disease-causing germline mutation(s) in | Assessed | HGNC:2736 | ENSG00000013573 | 601150 | 12p11.21 | DEAD/H-box helicase 11 | 23033317[PMID]_20137776[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 20137776[PMID]_21490908[PMID]_23033317[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
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/280558
- This record as JSON: /data/d/280558.json