The diagnosis of AOS is a clinical diagnosis based on the specific features described above. A system of major and minor criteria was proposed. Major features Minor features Terminal transverse limb defects Cutis marmorata Aplasia cutis congenita Congenital heart defect Family history of AOS Vascular anomaly The combination of two major criteria would be sufficient for the diagnosis of AOS, while a combination of one major and one minor feature would be suggestive of AOS. Genetic testing can be performed to test for the presence of mutation in one of the known genes, but these so far only account for an estimated 50% of patients with AOS. A definitive diagnosis may therefore not be achieved in all cases.
Adams–Oliver syndrome
Wilson's temperature syndrome
Wilson–Mikity syndrome
Gianotti–Crosti syndrome
Toriello–Carey syndrome
Schwartz–Matsuo syndrome
Pellegrini–Stieda syndrome
Gilbert's syndrome