Diagnostic criteria

Diagnostic criteria
(according to the Japanese Society of Pediatric Genetics and the Japanese Society of Congenital Anomalies)

A　Major symptoms

  1. Macrothrombocytopenia
  2. Intellectual disability
  3. Sensorineural deafness
  4. Camptodactyly
  5. Structural brain abnormality

B　Minor symptoms

    Recurrent infection
    Hypothyroidism
    Lymphedema

C Genetic testing

  1. Mutations in the CDC42 gene

«Diagnostic Category»

Definite：
　Four or more of the items in A plus C
Probable：
　Three items in A plus one or more of B