Weaver syndrome
Synonyms: EZH2-related overgrowth syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare PRC-2 complex-related overgrowth spectrum disorder characterized by pre- and post-natal overgrowth, facial dysmorphism (including hypertelorism, large fleshy ears and retrognathia with the appearance of a 'stuck-on' chin with associated horizontal skin crease) that is easily recognizable in early childhood. Majority of the patients present with mild intellectual disability. Additional variable features include macrocephaly, joint laxity, scoliosis, pectus excavatum, hypo- and/or hypertonia, poor coordination, soft dough skin, clinodactyly, camptodactyly of the fingers and/or toes, umbilical hernia, and a low hoarse cry in infancy. Many clinical features, including facial dysmorphism, attenuate with age. Patients may also have a higher risk of neuroblastoma.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Weaver syndrome | EZH2-related overgrowth syndrome |
| fr | Syndrome de Weaver | Syndrome d'hypercroissance associé à EZH2 |
| de | Weaver-Syndrom | EZH2-assoziiertes Großwuchssyndrom |
| es | Síndrome de Weaver | Síndrome de sobrecrecimiento asociado a EZH2 |
| it | Sindrome di Weaver | Camptodattilia - iperaccrescimento - dismorfismi · Sindrome da iperaccrescimento correlata a EZH2 |
| nl | Syndroom van Weaver | EZH2-gerelateerd overgroeisyndroom |
| pt | Síndrome Weaver | Síndrome de sobrecrescimento EZH2-relacionada · Síndrome de sobrecrescimento associado a EZH2 |
| pl | Zespół Weavera | Kamptodaktylia - przerost - nietypowa twarz |
| cs | Weaverův syndrom | Syndrom zahrnující kamptodaktylii, makrosomii a faciální dysmorfismus |
| uk | Синдром Вівера | Синдром надмірного росту, повязаний з EZH2 · Синдром гіпертрофії, асоційований з EZH2 |
| zh | Weaver综合征 | 指弯曲畸形-生长过度-特殊面容综合征 |
| tr | Weaver sendromu | Kamptodaktili-aşırı büyüme-alışılmadık yüz sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 277590 | E | validated | |
| ICD-10 | Q87.3 | NTBT | inclusion | validated |
| ICD-11 | LD2C | NTBT | index | validated |
| MONDO | 0010193 | E | validated | |
| MeSH | C536687 | E | validated | |
| UMLS | C0265210 | E | validated | |
| GARD | 7878 | E | validated | |
| MedDRA | 10083271 | 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 (1):
- ORPHA:659387PRC-2 complex-related overgrowth spectrum
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases; rare bone diseases
No children.
Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| NSD1 | Candidate gene tested in | Not yet assessed | HGNC:14234 | ENSG00000165671 | 606681 | 5q35.3 | nuclear receptor binding SET domain protein 1 | |
| SUZ12 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:17101 | ENSG00000178691 | 606245 | 17q11.2 | SUZ12 polycomb repressive complex 2 subunit | 28229514[PMID] |
| EZH2 | Disease-causing germline mutation(s) in | Assessed | HGNC:3527 | ENSG00000106462 | 601573 | 7q36.1 | enhancer of zeste 2 polycomb repressive complex 2 subunit | 22177091[PMID]_23865096[PMID]_24214728[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 48 cases | Worldwide | Case(s) | Validated | 24214728[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24214728[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
42 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001231 | Abnormal fingernail morphology | |
| HP:0000944 | Abnormal metaphysis morphology | |
| HP:0010300 | Abnormally low-pitched voice | |
| HP:0005616 | Accelerated skeletal maturation | |
| HP:0000337 | Broad forehead | |
| HP:0001814 | Deep-set nails | |
| HP:0001263 | Global developmental delay | |
| HP:0001609 | Hoarse voice | |
| HP:0000316 | Hypertelorism | |
| HP:0001276 | Hypertonia | |
| HP:0001800 | Hypoplastic toenails | |
| HP:0001249 | Intellectual disability | |
| HP:0000343 | Long philtrum | |
| HP:0000256 | Macrocephaly | |
| HP:0000400 | Macrotia | |
| HP:0000347 | Micrognathia | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0001582 | Redundant skin | |
| HP:0000278 | Retrognathia | |
| HP:0001257 | Spasticity | |
| HP:0000098 | Tall stature | |
| HP:0001816 | Thin nail | |
| Frequent (79-30%) | ||
| HP:0001769 | Broad foot | |
| HP:0011304 | Broad thumb | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0002002 | Deep philtrum | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0002213 | Fine hair | |
| HP:0000023 | Inguinal hernia | |
| HP:0001387 | Joint stiffness | |
| HP:0001176 | Large hands | |
| HP:0000311 | Round face | |
| Occasional (29-5%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0000028 | Cryptorchidism | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0006101 | Finger syndactyly | |
| HP:0008736 | Hypoplasia of penis | |
| HP:0001382 | Joint hypermobility | |
| HP:0001761 | Pes cavus | |
| HP:0001852 | Sandal gap | |
| HP:0002650 | Scoliosis | |
| HP:0001762 | Talipes equinovarus | |
Run the differential on the 12 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3447
- This record as JSON: /data/d/3447.json