Adams-Oliver Syndrome (AOS) is a rare genetic disease characterized by aplasia cutis congenita (ACC) and terminal transverse limb defects (TTLD) with varying degrees of severity in each individual. Some patients may show very mild clinical features, while others may be severe. The prevalence of AOS is unknown. Variable clinical features are observed in different individuals, including malformations of the hands, arms, feet and/or legs that range from hypoplastic fingers and toes to absent hands and/or lower legs, and occasionally show intellectual deficit. Physical anomalies may present in some AOS patients including congenital cataract, strabismus and microphthalmia, congenital heart malformations, and hepatoportal sclerosis. Extensive lethal anomalies are also possible.
The diagnosis is suspected at birth based on clinical findings of ACC of the scalp and TTLD. The treatment options for Adams Oliver Syndrome are supportive with surgical management of the defects. The limb and scalp defects require orthopedic treatment.