Definition:
Adams-Oliver syndrome (AOS) is a genetic condition wherein the scalp as well as the skull display a certain defect called aplasia cutis congentia as well as limb abnormalities. Persons with congenital heart disease are found to have this condition.
Diagnosis:
The disease is diagnosed via genetic counseling.
Treatment:
Treatment for this disorder is by managing the present symptoms. Orthopedic devices are recommended to gain correct balance and posture for asymmetrical limbs, and skin grafting for scalp defects.
Symptoms and Signs:
Among the symptoms of AOS are assymetrical limbs such as missing finger or toenails, or missing hands, lower legs or feet. Claw-hand malformations are also present as well as brachydactyly.
Causes:
AOS is an autosomal dominant disease, but the exact caused of this genetic mutation is not yet explained.
