Laurin-Sandrow syndrome

Definition

Laurin-Sandrow syndrome (LSS) is a rare autosomal dominant disorder characterized by polysyndactyly of hands and/or feet, mirror image duplication of the feet, and nasal defects. It has been shown that small microduplications within the ZRS region are the underlying genetic cause of LSS. ZRS is highly conserved in all vertebrates with limb appendages and consists of an 800bp enhancer sequence located within intron 5 of LMBR1.

References:

[1]. Adrián Mariño-Enríquez, et al. Laurin-Sandrow syndrome: review and redefinition. Am J Med Genet A. 2008 Oct 1;146A(19):2557-65. [Content Brief]

[2]. S Lohan, et al. Microduplications encompassing the Sonic hedgehog limb enhancer ZRS are associated with Haas-type polysyndactyly and Laurin-Sandrow syndrome. Clin Genet. 2014 Oct;86(4):318-25. [Content Brief]

生物医学辞典

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