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Adams Oliver syndrome
Other Names for this Disease
- Aplasia cutis congenita with terminal transverse defects of limbs, and skull defects
- Congenital scalp defects with distal limb anomalies
- Forrest H Adams syndrome
- Limb scalp and skull defects
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Adams Oliver syndrome is characterized by birth defects involving the scalp, vascular system (blood vessels), and limbs. Symptoms of Adams Oliver syndrome vary greatly from patient to patient but may include missing areas of skin (often on the scalp), limb defects, heart defects, cutis marmorata telangiectatica congenita, and occasionally pulmonary hypertension and central nervous system abnormalities. The cause of Adams Oliver syndrome is currently unknown. Both genetic and sporadic inheritance have been reported in the medical literature, however in most cases this syndrome is inherited in an autosomal dominant fashion.
- Patel MS et al.,. Abnormal pericyte recruitment as a Cause for pulmonary hypertension in Adams-Oliver syndrome. American Journal of Medical Genetics. 2004.
- Piazza AJ, Blackston D, Sola A. A case of Adams-Oliver syndrome with associated brain and pulmonary involvement: Further evidence of vascular pathology?. American Journal of Medical Genetics. 2004.
- Swartz EN, Sanatani S, Sandor GGS, Schrieber RA. Vascular abnormalities in Adams-Oliver syndrome: Cause or effect?. American Journal of Medical Genetics. 1999.
On this page
- 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.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- 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.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Adams Oliver syndrome. Click on the link to go to OMIM and review these resources.