AOS was initially described as having autosomal dominant inheritance due to the reports of families with multiple affected family members in more than one generation. The severity of the condition can vary between family members, suggestive of variable expressivity and reduced penetrance of the disease-causing allele. Subsequently, it was reported that some cases of AOS appear to have autosomal recessive inheritance, perhaps with somewhat more severe phenotypic effects. Six AOS genes have been identified: ARHGAP31, DOCK6, RBPJ, EOGT, NOTCH1, and DLL4. ARHGAP31 and DOCK6 are both regulatory proteins that control members of the Rho family of GTPases and specifically regulate the activity of Cdc42 and Rac1. Autosomal dominant mutations in ARHGAP31 (a GTPase-activating protein) and autosomal recessive mutations in DOCK6 (a guanine nucleotide exchange factor) cause an accumulation of the inactive GTPase and lead to defects of the cytoskeleton. RBPJ, EOGT, NOTCH1 and DLL4 are all involved in the Notch signalling pathway. Mutations in EOGT are found in AOS with autosomal recessive inheritance; the other three genes account for cases with autosomal dominant inheritance.
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