Weaver-Williams syndrome
historical
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- historical
Weaver-Williams syndrome is a multiple congenital anomalies syndrome characterized by moderate-to-severe intellectual disability, decreased muscle mass, microcephaly, facial dysmorphism (prominent ears, midfacial hypoplasia, small mouth and cleft palate), clinodactyly of the fingers, delayed osseous maturation and generalized bone hypoplasia. The syndrome has been described in a brother and sister and an autosomal recessive mode of inheritance has been suggested. There have been no further descriptions in the literature since 1977.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Weaver-Williams syndrome | |
| fr | Syndrome de Weaver-Williams | |
| de | Weaver-Williams-Syndrom | |
| es | Síndrome de Weaver-Williams | |
| it | Sindrome di Weaver-Williams | |
| nl | Weaver-Williamssyndroom | |
| pt | Síndrome Weaver-Williams | |
| pl | Zespół Weavera i Williamsa | |
| cs | Weaverův-Wiliamsův syndrom | Weaver-Wiliamsův syndrom |
| uk | Синдром Вівера-Вільямса | |
| zh | Weaver-Williams综合征 | |
| tr | Weaver-Williams sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0018095 | E | validated | |
| UMLS | C0796198 | E | validated | |
| GARD | 5545 | 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 | 2 cases | Worldwide | Case(s) | Validated | 890101[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_890101[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
7 annotations · validated 2016-07-08| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0000175 | Cleft palate | Diagnostic criterion |
| HP:0004325 | Decreased body weight | Diagnostic criterion |
| HP:0002342 | Intellectual disability, moderate | Diagnostic criterion |
| HP:0000252 | Microcephaly | Diagnostic criterion |
| HP:0000160 | Narrow mouth | Diagnostic criterion |
| HP:0000411 | Protruding ear | Diagnostic criterion |
| Occasional (29-5%) | ||
| HP:0010864 | Intellectual disability, severe | |
Annotation source: 890101[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3448
- This record as JSON: /data/d/3448.json