Weaver syndrome

Preferred Label : Weaver syndrome;

Symbol : WVS;

CISMeF acronym : WSS; WVS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Weaver-smith syndrome; WSS;

Description : Weaver syndrome comprises pre- and postnatal overgrowth, accelerated osseous maturation, characteristic craniofacial appearance, and developmental delay. Most cases are sporadic, although autosomal dominant inheritance has been reported. Although there is phenotypic overlap between Weaver syndrome and Sotos syndrome (117550), distinguishing features of Weaver syndrome include broad forehead and face, ocular hypertelorism, prominent wide philtrum, micrognathia, deep horizontal chin groove, and deep-set nails. In addition, carpal bone development is advanced over the rest of the hand in Weaver syndrome, whereas in Sotos syndrome carpal bone development is at or behind that of the rest of the hand (summary by Basel-Vanagaite, 2010). The 'Weaver-like' syndrome reported by Stoll et al. (1985) in a mother and son may be a separate entity. Sotos syndrome (117550), which shows considerable phenotypic overlap with Weaver syndrome, is caused by mutation in the NSD1 gene (601573) on chromosome 5q35.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the homolog 2 of Drosophila enhancer of zeste (EZH2, 601573.0001);

Prefixed ID : #277590;

Details

Origin ID

277590;

UMLS CUI

C0265210;

Automatic exact mappings (from CISMeF team)
- EZH2 wt Allele [NCIt concept]
- NF1 wt Allele [NCIt concept]
- Weaver syndrome [MedDRA Preferred Term]
- Wrinkly skin syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Congenital malformation syndromes involving early overgrowth [ICD-10 Sub-category]
- Congenital malformation syndromes involving early overgrowth [ICD-10 Sub-category (who)]
- Weaver Smith syndrome [Disease (Nov.)]
- Weaver Syndrome [NCIt concept]
- Weaver syndrome [ICD-11 More detail]
- Weaver syndrome [DO Concept]
- Weaver syndrome [MeSH concept]
- Weaver syndrome [ORDO Disease]
- Weaver syndrome (disorder) [SNOMED CT concept]
- Weaver-Like syndrome [MeSH concept]
- Weaver-Like syndrome [MeSH Supplementary Concept]
- Weaver-like syndrome [ORDO Disease]
- weaver syndrome [MeSH Supplementary Concept]
- weaver syndrome [SNOMED Notion]
DO Cross reference
- Weaver syndrome [DO Concept]
Genes related to phenotype
- Enhancer of zeste 2 polycomb repressive complex 2 subunit [OMIM gene]
HPO term(s)
- Abnormally low-pitched voice [HPO term]
- Absent septum pellucidum [HPO term]
- Accelerated skeletal maturation [HPO term]
- Autosomal dominant inheritance [HPO term]
- Behavioral abnormality [HPO term]
- Broad phalanges of the thumb [HPO term]
- Broad thumb [HPO term]
- Calcaneovalgus deformity [HPO term]
- Camptodactyly [HPO term]
- Clinodactyly [HPO term]
- Coxa valga [HPO term]
- Cryptorchidism [HPO term]
- Cutis laxa [HPO term]
- Deep-set nails [HPO term]
- Delayed speech and language development [HPO term]
- Depressed nasal bridge [HPO term]
- Diastasis recti [HPO term]
- Dilation of lateral ventricles [HPO term]
- Dimple chin [HPO term]
- Downslanted palpebral fissures [HPO term]
- Dysarthria [HPO term]
- Dysharmonic bone age [HPO term]
- Epicanthus [HPO term]
- Fine hair [HPO term]
- Flared femoral metaphysis [HPO term]
- Flared humeral metaphysis [HPO term]
- Flared irregular metaphyses [HPO term]
- Flattened nasal bridge [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hydrocele testis [HPO term]
- Hypertelorism [HPO term]
- Hypertonia [HPO term]
- Hypoplastic iliac wing [HPO term]
- Hypotonia [HPO term]
- Inguinal hernia [HPO term]
- Intellectual disability [HPO term]
- Inverted nipples [HPO term]
- Joint contracture of the hand [HPO term]
- Kyphosis [HPO term]
- Large hands [HPO term]
- Limited elbow extension [HPO term]
- Limited knee extension [HPO term]
- Long philtrum [HPO term]
- Macrocephaly [HPO term]
- Macrotia [HPO term]
- Mandibular prognathia [HPO term]
- Metatarsus adductus [HPO term]
- Overlapping toe [HPO term]
- Pes cavus [HPO term]
- Prominent chin with central dimple [HPO term]
- Prominent fingertip pads [HPO term]
- Radial deviation of finger [HPO term]
- Retrognathia [HPO term]
- Round face [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Short fourth metatarsal [HPO term]
- Short ribs [HPO term]
- Slurred speech [HPO term]
- Sparse hair [HPO term]
- Spasticity [HPO term]
- Speech delay [HPO term]
- Strabismus [HPO term]
- Talipes equinovarus [HPO term]
- Thin hair [HPO term]
- Thin nail [HPO term]
- Umbilical hernia [HPO term]
ORDO concept(s)
- Weaver syndrome [ORDO Disease]
- Weaver-like syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital malformation syndromes involving early overgrowth [ICD-10 Sub-category (who)]
- Weaver Smith syndrome [Disease (Nov.)]
- Weaver Syndrome [NCIt concept]
- Weaver syndrome [ORDO Disease]
- Weaver syndrome [MeSH concept]
- Weaver syndrome [ICD-11 More detail]
- Weaver syndrome [MedDRA Preferred Term]
- Weaver syndrome (disorder) [SNOMED CT concept]
- weaver syndrome [MeSH Supplementary Concept]
- weaver syndrome [SNOMED Notion]

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