What is Adams Oliver Syndrome (AOS)?
(Symptoms, Causes & Treatment)
According to the U.S. National Library of Medicine, Adams-Oliver syndrome (AOS) is a rare condition which is found to be present at birth. The primary features of AOS are an abnormality in skin development (referred to as aplasia cutis congenita) and malformations of the limbs. A variety of other features can occur in people with Adams-Oliver syndrome.
Most people with Adams-Oliver syndrome have aplasia cutis congenita, a condition characterized by localized areas of missing skin typically occurring on the top of the head (the skull vertex). In some cases, the bone under the skin is also underdeveloped. Individuals with this condition commonly have scarring and an absence of hair growth in the affected area.
Abnormalities of the hands and feet are also found to be common among people with Adams-Oliver syndrome. These most often involve the fingers and toes and can include abnormal nails, fingers or toes that are fused together (syndactyly), and abnormally short or missing fingers or toes (brachydactyly or oligodactyly). In some cases, other bones in the hands, feet, or lower limbs are malformed or missing.
See below for updated news and information regarding Adams Oliver Syndrome including new medical research, treatment options and advancements.
Latest Adams Oliver Syndrome Treatment News and Research
How a UBC professor is spurring research into rare diseases
(BC BUSINESS) – Dr. Millan Patel’s office at the Children’s & Women’s Health Centre of B.C. is a cozy clutter of files, bookcases, textbooks and folk art from Africa and Malaysia. Dim, wintery sunshine filters through a wood-framed window, illuminating the most striking object in the room: a rectangular whiteboard stretching almost to the ceiling and covered in skeins of red, blue and green letters, numbers, arrows and lines as cryptic as an Enigma code. These scribbles, Patel explains, represent the complex and myriad pathways underpinning a rare disease called Adams-Oliver syndrome.
One of only 120 medical geneticists in Canada, Patel is a clinician scientist, UBC professor and research director of the Rare Disease Foundation, an organization he co-founded in 2008. The purpose of the Vancouver-based foundation is to fund research into some of the most obscure, inexplicable and often deadly conditions thrown up by the human gene pool. Adams-Oliver is mystifying, causing numerous birth defects including loss of skin on the top of the head, limb defects, mottled skin and, sometimes, death in infancy. Today, one quarter of the world’s reported 400 cases participate in Patel’s ongoing research study. Read more…
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