Diagnostic criteria for Legius syndrome

A: The diagnostic criteria for Legius syndrome are met in an individual who does not have a parent diagnosed with Legius syndrome if the following criteria are present:

Six or more café-au-lait macules bilaterally distributed and no other NF1-related diagnostic criteria except for axillary or inguinal freckling*
A heterozygous pathogenic variant in SPRED1 with a variant allele fraction of 50% in apparently normal tissue such as white blood cells

B: A child of a parent who meets the diagnostic criteria specified in A merits a diagnosis of Legius syndrome if one or more of the criteria in A are present

* The presence of fewer than six café-au-lait spots does not exclude Legius syndrome.

From: Legius E, Messiaen L, Wolkenstein P, et al. Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: An international consensus recommendation. Genet Med 2021; 23:1506. Copyright © 2021 The Authors. Available at: https://www.nature.com/articles/s41436-021-01170-5 (Accessed on October 4, 2021). Reproduced under the terms of the Creative Commons Attribution License 4.0.

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Diagnostic criteria for Legius syndrome