Adams Oliver Syndrome

Common Name(s)

Adams Oliver Syndrome

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.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Adams Oliver Syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Adams Oliver Syndrome" returned 18 free, full-text research articles on human participants. First 3 results:

Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome.
 

Author(s): Josephina A N Meester, Laura Southgate, Anna-Barbara Stittrich, Hanka Venselaar, Sander J A Beekmans, Nicolette den Hollander, Emilia K Bijlsma, Appolonia Helderman-van den Enden, Joke B G M Verheij, Gustavo Glusman, Jared C Roach, Anna Lehman, Millan S Patel, Bert B A de Vries, Claudia Ruivenkamp, Peter Itin, Katrina Prescott, Sheila Clarke, Richard Trembath, Martin Zenker, Maja Sukalo, Lut Van Laer, Bart Loeys, Wim Wuyts

Journal: Am. J. Hum. Genet.. 2015 Sep;97(3):475-82.

 

Adams-Oliver syndrome (AOS) is a rare developmental disorder characterized by the presence of aplasia cutis congenita (ACC) of the scalp vertex and terminal limb-reduction defects. Cardiovascular anomalies are also frequently observed. Mutations in five genes have been identified ...

Last Updated: 5 Sep 2015

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Adams Oliver Syndrome.
 

Author(s): Anjali Madan, Kabir Sardana, Vijay Kumar Garg

Journal: Indian Pediatr. 2015 Jul;52(7):633-4.

 

Last Updated: 6 Aug 2015

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Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies.
 

Author(s): Laura Southgate, Maja Sukalo, Anastasios S V Karountzos, Edward J Taylor, Claire S Collinson, Deborah Ruddy, Katie M Snape, Bruno Dallapiccola, John L Tolmie, Shelagh Joss, Francesco Brancati, Maria Cristina Digilio, Luitgard M Graul-Neumann, Leonardo Salviati, Wiltrud Coerdt, Emmanuel Jacquemin, Wim Wuyts, Martin Zenker, Rajiv D Machado, Richard C Trembath

Journal: Circ Cardiovasc Genet. 2015 Aug;8(4):572-81.

 

Adams-Oliver syndrome (AOS) is a rare disorder characterized by congenital limb defects and scalp cutis aplasia. In a proportion of cases, notable cardiac involvement is also apparent. Despite recent advances in the understanding of the genetic basis of AOS, for the majority of affected ...

Last Updated: 19 Aug 2015

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Adams Oliver Syndrome" returned 1 free, full-text review articles on human participants. First 3 results:

An autopsy case of Adams-Oliver syndrome.
 

Author(s): S Y Jun, S K Khang, S H Park

Journal: J. Korean Med. Sci.. 2000 Aug;15(4):482-4.

 

We report an autopsy case of a male fetus with Adams-Oliver syndrome. His mother was a healthy, 31-year-old woman and her family and past histories were unremarkable. Therapeutic termination was done at 28(+6) weeks gestational age due to oligohydramnios detected by antenatal ultrasonography. ...

Last Updated: 21 Dec 2000

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.