Crouzon syndrome with Acanthosis Nigricans (AN)

Crouzon syndrome with acanthosis nigricans is a variant of Crouzon syndrome, as affected individuals develop characteristic pigmentations of the skin (AN) in addition to the other typical features of Crouzon syndrome. It is caused by a specific mutation, A391E, in the FGFR3 gene and molecular genetic testing for this mutation is requested for confirming the diagnosis. However, acanthosis nigricans may be present in the neonatal period or appear later in life and is therefore suggested that early combined testing for this particular mutation in an infant suspected for Crouzon syndrome may be beneficial.

We perform automated bi-directional fluorescent DNA sequencing of exon 10 of the FGFR3 gene, allowing for the detection of more than 90% of pathological mutations for the disorder. Please refer to Crouzon Syndromefor combined testing.