A team of researchers within the genetics department at Guys hospital are undertaking a study to try to find the genetic cause for Adams-Oliver Syndrome. If you, or a member of your family, are affected by Adams-Oliver Syndrome and would like more information about becoming involved in the study please e-mail: katie.snape@genetics.kcl.ac.uk, or write to Dr Katie Snape, Trembath Laboratory, Department of Medical and Molecular Genetics, 9th Floor, Guys Tower, Guys Hospital, London SE1 9RT. This study has full ethical approval.

Adams Oliver syndrome: Absence Defect of Limbs, Scalp and Scull; Congenital Scalp Defects with Distal Limb Reduction Anomalies.

Adams Oliver syndrome is a rare disorder identified in 1945 by Dr F H Adams and Dr C P Oliver. The syndrome is characterised by congenital scalp and scull defects. These defects can range from mild, with some skin and hair defect, through to severe when there may be defects of the underlying bone. Although bald ulcerated areas of the scull usually heal on their own, occasionally plastic surgery is needed. Rarely, bleeding occurs from dilated veins that are sometimes associated with severe scalp defects. Other features that may occur include eye anomalies, accessory nipples cutis marmorata telangiectatica congenita, haemangiomas, skin tags and woolly hair.

Although the underlying mechanism of the disease is not known it has been suggested that it could result from an early embryonic vascular abnormality.

Intellectual development is generally within normal limits, even in individuals with large cranial bone defects, although learning disabilities have been reported.

Limb defects, ranging from small fingers and toes through to severe involvement of long bones, can also occur. In very severe cases, the lower limb can be absent below mid-calf. However, it is common for people with the affected gene to have minimal scalp or limb abnormality. While surgery may be indicated for some of the scull defects, treatment is otherwise symptomatic. Management focuses on ameliorating the effects of any scull or limb defects.

Inheritance patterns
Autosomal dominant. Genetic counselling is recommended for families affected by this condition.

Prenatal diagnosis
No specific test is available. A detailed eighteen week ultrasound scan may detect the more severe limb and cranial defects.

Medical text written December 1993 by Dr D Ravine, Senior Registrar, Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK. Last updated February 2003 by Contact a Family. Approved February 2003 by Mr D E Porter, Senior Lecturer & Hon. Consultant in Orthopaedic Surgery, University of Edinburgh, Edinburgh, UK.

Further Online Resources
Medical texts in The Contact a Family Directory are designed to give a short, clear description of specific conditions and rare disorders. More extensive information on this condition can be found on a range of reliable, validated web sites and links to them are included in the CD-ROM version of this Directory. Further information on these resources can be found in our Medical Information on the Internet article.

ADAMS-OLIVER SYNDROME SUPPORT GROUP

Adams-Oliver Syndrome Support Group
14 College View
Connah's Quay
Deeside
CH5 4BY
e-mail: sandy.ivins@btinternet.com

The Group is a contact group, established in 1993. It offers moral support through shared experiences. The Group is in touch with over 50 families in the UK, Canada, Europe, South America and the Middle East.

Group details last confirmed June 2007.