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Wrinkly skin syndrome
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autosomal recessive fashion. It can be caused by mutations in the ATP6VOA2 gene. Related conditions include autosomal recessive cutis laxa syndrome type 2 and Cantu 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
Last updated: 10/12/2011
- 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.
In Depth Information
- MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
- The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Wrinkly skin syndrome. Click on the link to view a sample search on this topic.
Selected Full-Text Journal Articles
- Morava E, Guillard M, Lefeber DJ, Wevers RA. Autosomal recessive cutis laxa syndrome revisited. Eur J Hum Genet. 2009 Sep;17(9):1099-110.