Weaver syndrome
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.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0002254
syndromic disease
is_a
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a
MONDO:0018230
skeletal dysplasia
is_a
MONDO:0019716
overgrowth syndrome
is_a
EZH2 related overgrowth
related
WVS
related
Weaver Smith syndrome
related
Weaver Williams syndrome
related
Weaver like syndrome
related
Weaver syndrome
exact
camptodactyly - overgrowth - unusual facies
related
camptodactyly-overgrowth-unusual facies syndrome
exact
intellectual disability, microcephaly, weight deficiency, unusual facies, clinodactyly, bone hypoplasia, and cleft palate
related
mental retardation, microcephaly, weight deficiency, unusual facies, clinodactyly, bone hypoplasia, and cleft palate
related
overgrowth syndrome with accelerated skeletal maturation, unusual facies, and camptodactyly
related