Other Names for this Disease
- Limb scalp and skull defects
- Congenital scalp defects with distal limb anomalies
- Congenital scalp defects with distal limb reduction anomalies
- Limb, scalp and skull defects
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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. Severity can vary greatly among affected people and may be lethal in some cases. 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. Treatment depends on the severity and specific features in each person, and often involves a team of specialists.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
Last updated: 1/15/2016
- Adams-Oliver syndrome. Genetics Home Reference. November, 2015; http://ghr.nlm.nih.gov/condition/adams-oliver-syndrome.
- 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/.
- Adams Oliver syndrome. Orphanet. November, 2006; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=974.
- 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.
- 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.