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Weaver syndrome
rareWeaver 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.
- Identifiers
- MONDO:0010193 OMIM:277590Orphanet:3447
- Causal genes
- EZH2
- Part of
- Multiple congenital anomalies/dysmorphic syndrome-intellectual disabilityOvergrowth syndromeSkeletal dysplasiaSyndromic disease
- Also known as
- camptodactyly - overgrowth - unusual facies · camptodactyly-overgrowth-unusual facies syndrome · EZH2 related overgrowth · intellectual disability, microcephaly, weight deficiency, unusual facies, clinodactyly, bone hypoplasia, and cleft palate · mental retardation, microcephaly, weight deficiency, unusual facies, clinodactyly, bone hypoplasia, and cleft palate
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