What is Adams-Oliver syndrome

Adams-Oliver syndrome is a rare genetic disorder that primarily affects the development of the skin, limbs, and blood vessels. It is characterized by two main features: aplasia cutis congenita (ACC) and limb abnormalities.

ACC refers to the absence of skin, typically on the scalp, which appears as localized bald patches or larger open sores. This condition can vary in severity, ranging from small, superficial lesions to more extensive areas of missing skin.

Limb abnormalities associated with Adams-Oliver syndrome can include shortened or missing fingers or toes, fusion of fingers or toes, or underdeveloped limbs. These abnormalities may affect one or both sides of the body.

Additionally, individuals with Adams-Oliver syndrome may have other related features such as heart defects, eye abnormalities, and developmental delays. The severity and specific combination of symptoms can vary widely among affected individuals.

Adams-Oliver syndrome is caused by mutations in certain genes involved in the development of the skin and blood vessels. It is typically inherited in an autosomal dominant manner, meaning that an affected individual has a 50% chance of passing the condition on to each of their children.