Mosaic Legius syndrome

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Synonyms: Mosaic NF1-like syndrome | Mosaic neurofibromatosis 1-like syndrome

A rare mosaic form of Legius syndrome characterized by findings typical of Legius syndrome namely multiple café-au-lait macules (CALMs) with or without axillary or inguinal freckling. Mosaic form is caused by postzygotic pathogenic variants in SPRED1 gene. In mosaic Legius syndrome the allelic/tissue distribution of the pathogenic SPRED1-variant clearly suggests mosaicsm and/or the distribution of CALMs is segmental. The phenotype can be milder than in Legius syndrome.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version May 2024

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