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Diseases

Genetic and Rare Diseases Information Center (GARD)

Adams-Oliver syndrome


Other Names for this Disease
  • Limb scalp and skull defects
  • AOS
  • Congenital scalp defects with distal limb anomalies
  • Congenital scalp defects with distal limb reduction anomalies
  • Limb, scalp and skull defects
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Adams-Oliver syndrome (AOS) or Adams Oliver syndrome, is a rare condition characterized by an abnormality of skin development (areas of missing skin on the scalp, called aplasia cutis congenita) and malformations of the hands and feet. These may include webbed fingers or toes (syndactyly); and short or missing fingers or toes (brachydactyly or oligodactyly). Other features may include additional skeletal abnormalities of the limbs; cutis marmorata telangiectatica congenita (a blood vessel disorder); pulmonary hypertension; heart defects; and neurological problems.[1] Severity can vary greatly among affected people and may be lethal in some cases.[2] AOS is caused by mutations in any of six known genes. It may be inherited in an autosomal dominant or autosomal recessive manner, depending on the genetic cause. In some cases, the genetic cause is unknown.[1] Treatment depends on the severity and specific features in each person, and often involves a team of specialists.[3]
Last updated: 1/15/2016

References

  1. Adams-Oliver syndrome. Genetics Home Reference. November, 2015; http://ghr.nlm.nih.gov/condition/adams-oliver-syndrome.
  2. Seo JK & cols. A Case of Adams-Oliver Syndrome. Ann Dermatol. February, 2010; 22(1):96-98. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2883411/.
  3. Adams Oliver syndrome. Orphanet. November, 2006; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=974.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Adams-Oliver syndrome. This website is maintained by the National Library of Medicine.
  • More information on limb abnormalities can be found at the following link from MEDLINEplus, the National Library of Medicine Web site designed to help you research your health questions.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a 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 Adams-Oliver syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Limb scalp and skull defects
  • AOS
  • Congenital scalp defects with distal limb anomalies
  • Congenital scalp defects with distal limb reduction anomalies
  • Limb, scalp and skull defects
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.