Weaver Syndrome (WVS)

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Disease Ontology 12 DOID:14731 OMIM 56 277590 KEGG 36 H01751 MeSH 43 C562443 D006130 MESH via Orphanet 44 C536687 ICD10 via Orphanet 33 Q87.3 Q87.8

UMLS via Orphanet 72 C0265210 Orphanet 58 ORPHA3447 ORPHA3448 MedGen 41 C0220765 C0265210 SNOMED-CT via HPO 68 109504005 111266001 123982003 128602000 128613002 14582003 161832001 162294008 17268007 194021007 201093004 202281000 203541003 204878001 205091006 22006008 22066006 221360009 224958001 22810007 228156007 229721007 246545002 246800008 247546006 247578003 248328003 248342006 249696007 249752003 249769001 249773003 249808002 253143001 25786006 262285001 263681008 26614003 268251006 271611007 275478007 275480001 277843001 289195008 29164008 29271008 299236004 313307000 32958008 34048007 34911001 386152007 396232000 396347007 397790002 397932003 398151007 398152000 40700009 414564002 41581000 50219008 53602002 55434001 56558005 56731001 58588007 61152003 62415009 62629000 63567004 63829008 64217002 69056000 77599005 8011004 82231009 84445001 84757009 86414002 87979003 89362005 91138005 91175000 more UMLS 71 C0220765 C0265210

Genetics Home Reference : ²⁵ Weaver syndrome is a condition that involves tall stature with or without a large head size (macrocephaly), a variable degree of intellectual disability (usually mild), and characteristic facial features. These features can include a broad forehead; widely spaced eyes (hypertelorism); large, low-set ears; a dimpled chin, and a small lower jaw (micrognathia). People with Weaver syndrome can also have joint deformities called contractures that restrict the movement of affected joints. The contractures may particularly affect the fingers and toes, resulting in permanently bent digits (camptodactyly). Other features of this disorder can include abnormal curvature of the spine (kyphoscoliosis); muscle tone that is either reduced (hypotonia) or increased (hypertonia); loose, saggy skin; and a soft-outpouching around the belly-button (umbilical hernia). Some affected individuals have abnormalities in the folds (gyri) of the brain, which can be seen by medical imaging; the relationship between these brain abnormalities and the intellectual disability associated with Weaver syndrome is unclear. Researchers suggest that people with Weaver syndrome may have an increased risk of developing cancer, in particular a slightly increased risk of developing a tumor called neuroblastoma in early childhood, but the small number of affected individuals makes it difficult to determine the exact risk.

MalaCards based summary : Weaver Syndrome, also known as wss, is related to sotos syndrome 1 and overgrowth syndrome, and has symptoms including muscle spasticity An important gene associated with Weaver Syndrome is EZH2 (Enhancer Of Zeste 2 Polycomb Repressive Complex 2 Subunit), and among its related pathways/superpathways are Lysine degradation and Cellular Senescence (REACTOME). Affiliated tissues include bone, skin and brain, and related phenotypes are microcephaly and cleft palate

Disease Ontology : ¹² A syndrome that is characterized by prenatal and postnatal overgrowth, accelerated osseous maturation, characteristic craniofacial appearance, and developmental delay and has material basis in heterozygous mutation in the EZH2 gene on chromosome 7q36.

NIH Rare Diseases : ⁵² Weaver syndrome is a rare condition that is characterized primarily by tall stature. Other signs and symptoms of the condition may include macrocephaly (unusually large head size); intellectual disability ; distinctive facial features; camptodactyly (permanently bent digits) of the fingers and/or toes; poor coordination; soft and doughy skin; umbilical hernia ; abnormal muscle tone; and a hoarse, low-pitched cry during infancy. Some studies also suggest that people affected by Weaver syndrome may have an increased risk of developing neuroblastoma . Weaver syndrome is usually caused by changes (mutations ) in the EZH2 gene . Although the condition is considered autosomal dominant , most cases occur as de novo mutations in people with no family history of the condition. Treatment is based on the signs and symptoms present in each person.

OMIM : ⁵⁶ 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). Sotos syndrome (117550), which shows considerable phenotypic overlap with Weaver syndrome, is caused by mutation in the NSD1 gene (601573) on chromosome 5q35. Other 'Weaver-like' syndromes include Cohen-Gibson syndrome (COGIS; 617561), caused by heterozygous mutation in the EED gene (605984) on chromosome 11q14; and Imagawa-Matsumoto syndrome (IMMAS; 618786), caused by heterozygous mutation in the SUZ12 gene (606245) on chromosome 17q11. The 'Weaver-like' syndrome reported by Stoll et al. (1985) in a mother and son may be a separate entity. (277590)

KEGG : ³⁶ Weaver syndrome (WS) is an overgrowth syndrome, characterized by tall stature, a typical facial appearance, and variable intellectual disability. Although there is phenotypic overlap between Weaver syndrome and Sotos syndrome, WS patients have additional clinical features including camptodactyly, doughy skin, umbilical hernia, and a low hoarse cry. Recently, mutations in the histone methyltransferase, EZH2, were shown to cause WS.

UniProtKB/Swiss-Prot : ⁷³ Weaver syndrome: A syndrome of accelerated growth and osseous maturation, unusual craniofacial appearance, hoarse and low-pitched cry, and hypertonia with camptodactyly. 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.

Wikipedia : ⁷⁴ Weaver syndrome is a rare autosomal dominant genetic disorder associated with rapid growth beginning in... more...

Clinical features from OMIM:

277590

Search Clinical Trials , NIH Clinical Center for Weaver Syndrome

Search GEO for disease gene expression data for Weaver Syndrome.