Cenani-Lenz syndactyly syndrome

Definition:

Cenani-Lenz syndactyly syndrome (CLSS) is an autosomal-recessive congenital malformation syndrome characterized by syndactyly and/or oligodactyly and kidney anomalies. The cause of CLSS is LRP4, a low-density lipoprotein receptor that modulates Wnt signaling.

References:

[1]. Courtney M Karner, et al. Lrp4 regulates initiation of ureteric budding and is crucial for kidney formation--a mouse model for Cenani-Lenz syndrome. PLoS One. 2010 Apr 29;5(4):e10418. [Content Brief]

[2]. Yun Li, et al. LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome. Am J Hum Genet. 2010 May 14;86(5):696-706. [Content Brief]

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