How many people in the world have Adams Oliver Syndrome?
AOS occurs in about 44 out of every 10 million people and is present at birth.
What is aplasia cutis?
Aplasia Cutis Congenita is a rare disorder with a complicated pattern of inheritance. Babies are born with the absence of certain layer(s) of skin, most often on the scalp, but also on the trunk, and/or arms and legs. The affected area is typically covered with a thin, transparent membrane.
Who discovered Adams Oliver Syndrome?
History. AOS was first reported by the American pediatric cardiologist Forrest H. Adams and the clinical geneticist Clarence Paul Oliver in a family with eight affected members.
What kind of disease is Adams Oliver syndrome?
Adams-Oliver syndrome (AOS) is a rare disease characterized by an abnormality of skin development (areas of missing skin on the scalp called aplasia cutis congenita) and malformations of the hands and feet (terminal transverse limbs defects).
How are mutations in ARHGAP31 related to Adams Oliver syndrome?
Mutations in the ARHGAP31 gene also decrease GTPase activity by leading to production of an abnormally active ARHGAP31 protein, which turns off GTPases when it normally would not. This decline in GTPase activity leads to the skin problems, bone malformations, and other features characteristic of Adams-Oliver syndrome.
What is the role of RBPJ in Adams Oliver syndrome?
The RBPJ gene mutations involved in Adams-Oliver syndrome alter the region of the RBP-J protein that normally binds DNA. The altered protein is unable to bind to DNA, preventing it from turning on particular genes.
How long does it take Adams Oliver syndrome to heal?
However, in most cases, these skin lesions heal without treatment (spontaneously) within the first few months of life. In some infants with Adams-Oliver syndrome, abnormally wide (dilated) blood vessels may be apparent under the skin lesions. In severe cases, these fragile dilated blood vessels may bleed (hemorrhage).