Adams Oliver Syndrome

Important
It is possible that the main title of the report Adams Oliver Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

Absence Defect of Limbs, Scalp and Skull
Congenital Scalp Defects with Distal Limb Reduction Anomalies
Aplasia Cutis Congenita with Terminal Transverse Limb Defects

Disorder Subdivisions

None

General Discussion

Adams-Oliver syndrome (AOS) is an extremely rare inherited disorder characterized by defects of the scalp and abnormalities of the fingers, toes, arms, and/or legs. The physical abnormalities associated with this disorder vary greatly among affected individuals. Some cases may be very mild while others may be severe. In infants with Adams-Oliver syndrome, scalp defects are present at birth (congenital) and may include one or multiple hairless scarred areas that may have abnormally wide (dilated) blood vessels directly under the affected skin. In severe cases, an underlying defect of the bones of the skull may also be present. In addition, infants with this disorder typically have malformations of the hands, arms, feet, and/or legs. These range from abnormally short (hypoplastic) fingers and toes to absent hands and/or lower legs. In some cases, additional abnormalities may also be present. Most cases of AOS appear to follow autosomal dominant inheritance but autosomal recessive inheritance has also been reported.

Resources

NIH/National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse
1 AMS Circle
Bethesda, MD 20892-3675
USA
Tel: (301)495-4484
Fax: (301)718-6366
Tel: (877)226-4267
TDD: (301)565-2966
Email: NIAMSinfo@mail.nih.gov
Internet: http://www.niams.nih.gov/Health_Info

Adams Oliver Syndrome Support Group
14 College View
Connah's Quay
Deeside, Intl CH5 4BY
United Kingdom
Tel: 01244 816209
Email: sandy.ivins@btinternet.com

Birth Defect Research for Children
930 Woodcock Rd
Suite 225
Orlando, FL 32803
USA
Tel: (407)895-0802
Fax: (407)895-0824
Email: staff@birthdefects.org
Internet: http://www.birthdefects.org

AOSupport
Internet: http://www.aosupport.org

For a Complete Report:

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated: 4/6/2009
Copyright 1988, 1989, 1997, 1998, 2004, 2007, 2009 National Organization for Rare Disorders, Inc.

WebMD Medical Reference from the National Organization of Rare Disorders

Last Updated: April 06, 2009

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