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Saethre-Chotzen syndrome

Friday 15 June 2007

The Saethre-Chotzen syndrome is an autosomal, dominantly inherited craniosynostosis caused by mutations in the basic helix-loop-helix transcription factor gene TWIST1 (MIM.601622).


- tumoral predisposition


- Saethre-Chotzen syndrome (SCS) is caused by mutation in the TWIST1 gene (MIM.601622).

- A phenotype of SCS has been described with a mutation in the FGFR2 gene (MIM.176943).

Twist-1 may act as a key regulator of metastasis and that the gene is overexpressed in subsets of sporadic human breast cancers.

Differential diagnosis

- Muenke syndrome (MIM.602849)

  • Muenke syndrome is caused by a mutation in the FGFR3 gene (P250R) has a similar overlapping phenotype to SCS.


- Sahlin P, Windh P, Lauritzen C, Emanuelsson M, Gronberg H, Stenman G. Women with Saethre-Chotzen syndrome are at increased risk of breast cancer. Genes Chromosomes Cancer. 2007 Jul;46(7):656-60. PMID: 17437280

- Howard, T. D.; Paznekas, W. A.; Green, E. D.; Chiang, L. C.; Ma, N.; Ortiz De Luna, R. I.; Delgado, C. G.; Gonzalez-Ramos, M.; Kline, A. D.; Jabs, E. W. : Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome. Nature Genet. 15: 36-41, 1997. PubMed ID : 8988166

- Johnson, D.; Horsley, S. W.; Moloney, D. M.; Oldridge, M.; Twigg, S. R. F.; Walsh, S.; Barrow, M.; Njolstad, P. R.; Kunz, J.; Ashworth, G. J.; Wall, S. A.; Kearney, L.; Wilkie, A. O. M. : A comprehensive screen for TWIST mutations in patients with craniosynostosis identifies a new microdeletion syndrome of chromosome band 7p21.1. Am. J. Hum. Genet. 63: 1282-1293, 1998. PubMed ID : 9792856