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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Wrinkly skin syndrome


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Overview

What is wrinkly skin syndrome?

What are the signs and symptoms of wrinkly skin syndrome?

What causes wrinkly skin syndrome?

What is wrinkly skin syndrome?

Wrinkly skin syndrome is a genetic condition characterized by 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). Other associated signs and symptoms vary widely. Case reports suggest that this condition is often inherited in an autosomal recessive fashion. It can be caused by mutations in the ATP6VOA2 gene.[1] Related conditions include autosomal recessive cutis laxa syndrome type 2 and Cantu syndrome.
Last updated: 10/12/2011

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)
Hernias
Last updated: 10/12/2011

What causes wrinkly skin syndrome?

In many cases the underlying genetic cause of wrinkly skin syndrome is not known. Some cases are caused by mutations in the ATP6VOA2 gene.[1] These gene mutations result in an abnormality in glycosylation.[1] Glycosylation is a chemical process that occurs in your body's cells that involve attaching sugar molecules to proteins. Mutations in ATP6VOA2 can also cause autosomal recessive cutis laxa syndrome type 2 (ARCL type 2).[1] Some consider wrinkly skin syndrome to be a mild variant of ARCL type 2.[1]
Last updated: 10/12/2011

References
  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; http://www.nature.com.ezproxy.nihlibrary.nih.gov/ejhg/journal/v17/n9/full/ejhg200922a.html. Accessed 10/12/2011.


See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.