Learn About Adams-Oliver Syndrome

What is the definition of Adams-Oliver Syndrome?

Adams-Oliver syndrome is a rare condition that is present at birth. The primary features are an abnormality in skin development (called aplasia cutis congenita) and malformations of the limbs. A variety of other features can occur in people with Adams-Oliver syndrome.

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What are the causes of Adams-Oliver Syndrome?

Mutations in the ARHGAP31, DLL4, DOCK6, EOGT, NOTCH1, or RBPJ gene can cause Adams-Oliver syndrome. Because some affected individuals do not have mutations in one of these genes, it is likely that other genes that have not been identified are also involved in this condition. Each of the known genes plays an important role during embryonic development, and changes in any one of them can impair this tightly controlled process, leading to the signs and symptoms of Adams-Oliver syndrome.

How prevalent is Adams-Oliver Syndrome?

Adams-Oliver syndrome is a rare disorder; its prevalence is unknown.

Is Adams-Oliver Syndrome an inherited disorder?

Adams-Oliver syndrome can have different inheritance patterns. When caused by mutations in the ARHGAP31, DLL4, NOTCH1, or RBPJ gene, the condition is inherited in an autosomal dominant pattern. Autosomal dominant inheritance means that one copy of the altered gene in each cell is sufficient to cause the disorder. The altered gene is typically inherited from an affected parent. Some cases associated with NOTCH1 gene mutations result from new (de novo) mutations in the gene that occur during the formation of reproductive cells (eggs or sperm) or in early embryonic development. These cases occur in people with no history of the disorder in their family.

Who are the top Adams-Oliver Syndrome Local Doctors?
Elite
Highly rated in
6
conditions

King's College London

London, ENG, GB SW170

Laura Southgate is in London, United Kingdom. Southgate is rated as an Elite expert by MediFind in the treatment of Adams-Oliver Syndrome. She is also highly rated in 6 other conditions, according to our data. Her top areas of expertise are Adams-Oliver Syndrome, Split Hand Foot Malformation, Ectodermal Dysplasias, and Clouston Syndrome.

Distinguished
Highly rated in
27
conditions

University Of Leuven

Respiratory Medicine 
Leuven, VLG, BE 

Wim Wuyts is in Leuven, Belgium. Wuyts is rated as a Distinguished expert by MediFind in the treatment of Adams-Oliver Syndrome. They are also highly rated in 27 other conditions, according to our data. Their top areas of expertise are Interstitial Lung Disease, Acute Interstitial Pneumonia, Hypersensitivity Pneumonitis, and Pulmonary Fibrosis.

 
 
 
 
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Distinguished
Highly rated in
10
conditions

University Of Magdeburg

Magdeburg, ST, DE 

Maja Sukalo is in Magdeburg, Germany. Sukalo is rated as a Distinguished expert by MediFind in the treatment of Adams-Oliver Syndrome. She is also highly rated in 10 other conditions, according to our data. Her top areas of expertise are Ectodermal Dysplasia Neurosensory Deafness, Johanson-Blizzard Syndrome, Ectodermal Dysplasias, and Clouston Syndrome.

What are the latest Adams-Oliver Syndrome Clinical Trials?
GROWing Up With Rare GENEtic Syndromes ….When Children With Complex Genetic Syndromes Reach Adult Age
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Coordination of Rare Diseases at Sanford
Who are the sources who wrote this article ?

Published Date:updated Last, November

Published By: National Institutes of Health

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Aplasia Cutis Congenita: A Case Report.