W syndrome
historical
Synonyms: Pallister-W syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Infancy, Neonatal
- Status
- historical
A rare multiple congenital anomalies/dysmorphic syndrome characterized by moderate to severe intellectual disability, neurologic signs and symptoms (such as seizures, spasticity, strabismus), characteristic dysmorphic facial features (including broad forehead, hypertelorism, downslanting palpebral fissures, broad and flat nasal bridge, midline notch of upper lip, lack of upper central incisors, incomplete oral cleft, and prominent mandible), and acne scars. Hearing impairment, pseudo-bulbar palsy, growth retardation, and skeletal anomalies (camptodactyly, clinodactyly, bilateral cubitus valgus, pes cavus/planus) have also been described.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | W syndrome | Pallister-W syndrome |
| fr | Syndrome W | Syndrome de Pallister W |
| de | W-Syndrom | Pallister-W-Syndrom |
| es | Síndrome W | Síndrome de Pallister-W |
| it | Sindrome W | Sindrome di Pallister W |
| nl | W-syndroom | Pallister-W-syndroom |
| pt | Síndrome W | Síndrome Pallister-W |
| pl | Zespół W | Zespół Pallistera i W |
| cs | W syndrom | Pallisterův W syndrom |
| uk | W-синдром | Синдром Паллістера-В |
| zh | W综合征 | Pallister-W综合征 |
| tr | W sendromu | Pallister-W sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 311450 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0010708 | E | validated | |
| MeSH | C538106 | E | validated | |
| UMLS | C0796110 | E | validated | |
| GARD | 358 | E | validated | |
| MedDRA | 10084236 | 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:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:139039Orofacial clefting syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 6 cases | Worldwide | Case(s) | Validated | 10594887[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
25 annotations · validated 2017-08-21| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0100037 | Abnormality of the scalp hair | |
| HP:0001061 | Acne | |
| HP:0006293 | Agenesis of maxillary central incisor | |
| HP:0001137 | Alternating esotropia | |
| HP:0002069 | Bilateral tonic-clonic seizure | |
| HP:0000455 | Broad nasal tip | |
| HP:0010809 | Broad uvula | |
| HP:0012385 | Camptodactyly | |
| HP:0030084 | Clinodactyly | |
| HP:0002967 | Cubitus valgus | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0003042 | Elbow dislocation | |
| HP:0001263 | Global developmental delay | |
| HP:0000316 | Hypertelorism | |
| HP:0003022 | Hypoplasia of the ulna | |
| HP:0001840 | Metatarsus adductus | |
| HP:0001761 | Pes cavus | |
| HP:0001763 | Pes planus | |
| HP:0011220 | Prominent forehead | |
| HP:0002986 | Radial bowing | |
| HP:0001257 | Spasticity | |
| HP:0000176 | Submucous cleft hard palate | |
| HP:0000506 | Telecanthus | |
| HP:0100268 | Upper lip pit | |
Annotation source: 8287184[PMID]_10594887[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2804
- This record as JSON: /data/d/2804.json