The diagnosis may be suspected on clinical grounds and can be confirmed by sequencing the DDX11 gene. Differential diagnosis The DDX should be based on the following: * Bloom syndrome * Cornelia de Lange syndrome * Fanconi anemia * Nijmegen<unk>  syndrome * Roberts syndrome * Xeroderma pigmentosum
Warsaw breakage syndrome
Nijmegen breakage syndrome
22q13 deletion syndrome
1p36 deletion syndrome
Chromosome instability syndrome
9q34 deletion syndrome
13q deletion syndrome
2q37 deletion syndrome