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Genetic and Rare Diseases Information Center (GARD)

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Wrinkly skin syndrome

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What are the signs and symptoms of wrinkly skin syndrome?

Common signs and symptoms of wrinkly skin syndrome include sagging or wrinkly skin, reduced skin elasticity, and delayed closure of the fontanel (a baby's "soft spot" on the top of his/her head). Additional signs and symptoms that have been described in individual cases, include:[1]

Small head size (microcephaly)
Unusual facial characteristics 
Downslanting eyes
Delayed motor development
Intellectual disability
Joint laxity, subluxation (a tendon slips out of its normal position)
Last updated: 10/12/2011

  1. Morava E, Guillard M, Lefeber DJ, Wevers RA. Autosomal recessive cutis laxa syndrome revisited. Eur J Hum Genet. 2009 Sep;17(9):1099-110; Accessed 10/12/2011.