[1] The main sign is anterior bowing and posterior cortical thickening of the diaphyses of both the tibiae and fibulae.

Associated features include dwarfism and mild intellectual disability as well as a process known as tibialization of the fibulae, which involves thickening and enlargement of these bones to an extent resembling the tibiae.

[2] The combination of the presence of tibialization of the fibulae, which is highly specific for the disorder, and the absence of laboratory abnormalities, ruling out alternative diagnoses including rickets, essentially confirms the diagnosis.

[citation needed] The most prominent and extensively documented findings of Weismann-Netter–Stuhl syndrome are on plain radiographs of the bones.

[5] They believed these seven patients had mistakenly been diagnosed as congenital syphilis or rickets, which remain the primary considerations in the differential diagnosis of this syndrome today.