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Adams Oliver syndrome


Other Names for this Disease
  • Adams-Oliver syndrome
  • AOS
  • Congenital scalp defects with distal limb anomalies
  • Congenital scalp defects with distal limb reduction anomalies
  • Limb scalp and skull defects
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Overview

Adams Oliver syndrome (AOS) is characterized by birth defects involving the scalp, vascular system (blood vessels), and limbs. While symptoms of Adams Oliver syndrome may vary greatly from patient to patient, most people have aplasia cutis congenita (a condition characterized by localized areas of missing skin typically occurring on the top of the head) and malformations of the hands and feet. Cutis marmorata telangiectatica congenita is present in about 20% of patients and congenital heart defects are observed in roughly 20% of patients. Occasionally affected people can have pulmonary hypertension and neurological problems such as developmental delay, learning disabilities, or abnormalities in the structure of the brain.

AOS can be inherited in two different ways. When the syndrome is caused by mutations in the ARHGAP31 or RBPJ gene, the condition is inherited in an autosomal dominant pattern. Mutations in the DOCK6 or EOGT genes are associated with an autosomal recessive form of the disease. Collectively, mutations in these four genes have not been shown to account for more than 10% of individuals with AOS. More recently, mutations in the NOTCH1 gene were reported to be a frequent cause of AOS.[1][2][3]
Last updated: 7/15/2015

References

  1. Adams-Oliver syndrome. Genetics Home Reference. 01/2014; http://ghr.nlm.nih.gov/condition/adams-oliver-syndrome. Accessed 7/15/2015.
  2. Algaze C, Esplin ED, Lowenthal A. Expanding the phenotype of cardiovascular malformations in Adams-Oliver syndrome. Am J Med Genet A.. 2013 Jun; 161A(6):1386-9. http://www.ncbi.nlm.nih.gov/pubmed/23613382. Accessed 7/15/2015.
  3. Stittrich AB, Lehman A, Bodian DL et al. Mutations in NOTCH1 cause Adams-Oliver syndrome. Am J Hum Genet. 2014 Sep; 95(3):275-84. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4157158/. Accessed 7/17/2015.
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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) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • 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
  • Adams-Oliver syndrome
  • 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.