Weaver syndrome

Orpha code: 3447OMIM code: 617561

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.

Disease data
Classification

Malformation syndrome

Synonyms
Camptodactyly-overgrowth-unusual facies syndrome
Kamptodaktylia - przerost - nietypowa twarz
ORPHA code
3447
OMIM code
617561
ICD10 code
Q87.3
ICD11 code
LD2C

No additional description.

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