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Wrinkly skin syndrome

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I am looking for more information on wrinkly skin syndrome; its symptoms, body changes, treatment, what to expect, effects on different ages, and cases.

The following information may help to address your question:


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. Wrinkly skin syndrome appears to be represent the mild version of autosomal recessive cutis laxa syndrome type 2.[1][2][3]
Last updated: 11/21/2016

What are the signs and symptoms of wrinkly skin syndrome?

Common signs and symptoms of wrinkly skin syndrome include wrinkled and inelastic skin on the face, backs of hands, tops of feet, and abdomen, and delayed closure of the fontanel (a baby's "soft spot" on the top of his/her head).[1][2][3] Additional signs and symptoms that have been described in individual cases, include:[1][3]

Small head size (microcephaly)
Unusual facial characteristics 
Downslanting eyes
Delayed motor development
Intellectual disability
Hip dislocation
Joint laxity, subluxation (a tendon slips out of its normal position)
Hernias
Growth delay

Online Mendelian Inheritance in Man (OMIM) lists additional signs and symptoms that have been described in people with wrinkly skin syndrome.


Last updated: 11/21/2016

What causes wrinkly skin syndrome?

In many cases the underlying genetic cause of wrinkly skin syndrome is not known.[4] Some cases are caused by mutations in the ATP6VOA2 gene.[1][2][3] These gene mutations result in an abnormality in glycosylation.[1][2] 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). Some consider wrinkly skin syndrome to be a mild variant of ARCL type 2.[1][2][3] 
Last updated: 11/21/2016

Do the signs and symptoms of wrinkly skin syndrome change as a person ages? What is the long term outlook for people with wrinkly skin syndrome?

Unfortunately much of what is known regarding wrinkly skin syndrome comes from individual case reports. There is very limited information regarding the long term outlook for people with this syndrome. Also there can be great variability of symptoms, particularly regarding growth delay, developmental delay, and neurological abnormalities. Some affected individuals have developed seizures and mental deterioration later in life.[5] Skin symptoms may become milder with age.[1][5]
Last updated: 11/21/2016

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  1. Morava E, Guillard M, Lefeber DJ, Wevers RA. Autosomal recessive cutis laxa syndrome revisited.. Eur J Hum Genet. 2009 Sep; 17(9):1099-1110. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2986595/.
  2. Van Maldergem L, Dobyns W, Kornak U. ATP6V0A2-Related Cutis Laxa. GeneReviews. February 12, 2015; https://www.ncbi.nlm.nih.gov/books/NBK5200/.
  3. Arora P, Chakravarty P, Khanna D, Gupta R. Cutis laxa autosomal recessive type II or wrinkly skin syndrome?. Indian Dermatol Online J. 2016 Sep-Oct; 7(5):440-442. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5038118/.
  4. Guillard M, Lefeber DJ, Morava E, Wevers RA. Wrinkly skin syndrome. Orphanet. July 2010; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2834.
  5. Kornak U et al.,. Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. Nat Genet. 2008 Jan; 40(1):32-4. http://www.ncbi.nlm.nih.gov/pubmed/18157129.