Basan syndrome

Definition:

Basan syndrome is a rare autosomal dominant ectodermal dysplasia, characterized by rapidly healing congenital acral bullae, congenital milia and lack of fingerprints. Other phenotypes include contractures of digits, hypohidrosis, palmoplantar keratoderma, and nail dystrophy. A mutation in the SMARCAD1 gene was recently reported to cause Basan syndrome.

References:

[1]. Katherine C Marks, et al. Analysis of two candidate genes for Basan syndrome. Am J Med Genet A. 2014 May;164A(5):1188-91. [Content Brief]

[2]. Ming Li, et al. Genome-wide linkage analysis and whole-genome sequencing identify a recurrent SMARCAD1 variant in a unique Chinese family with Basan syndrome. Eur J Hum Genet. 2016 Aug;24(9):1367-70. [Content Brief]

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