/Weaver syndrome

Weaver syndrome

Rare Disease

MONDO:0010193

Also Known As

WEAVER-like syndromeWeaver syndromecamptodactyly-overgrowth-unusual facies syndromeEZH2 related overgrowthWEAVER syndromeWVSWeaver Smith syndromeWeaver Williams syndromeWeaver like syndromeWeaver-Smith syndromeWeaver-like syndromecamptodactyly - overgrowth - unusual faciesintellectual disability, microcephaly, weight deficiency, unusual facies, clinodactyly, bone hypoplasia, and cleft palatemental retardation, microcephaly, weight deficiency, unusual facies, clinodactyly, bone hypoplasia, and cleft palateovergrowth syndrome with accelerated skeletal maturation, unusual facies, and camptodactyly

Definition

Weaver syndrome (WVS) is a rare, multisystem disorder characterized by tall stature, a typical facial appearance (hypertelorism, retrognathia) and variable intellectual disability. Additional features may include camptodactyly, soft doughy skin, umbilical hernia, and a low hoarse cry.