Diagnosis may be suspected on the basis of the clinical and radiologic findings, and can supported by molecular analysis of the SHOX, SHOXY and PAR1 genes. May also be suspected by ultrasound during the second trimester of gestation. Classification It's part of the<unk>  and rhizomelic skeletal dysplasias, primary bone diseases in which the short stature is due to a lack of complete bone development of the limb's long bones. It's strictly related to another disease, the Léri–Weill dyschondrosteosis, of which it seems to be the homozygothic variant, clinically more severe (it differs from this disorder for the absence, in some cases, of the Madelung deformity too).
Langer mesomelic dysplasia
Campomelic dysplasia
Acromesomelic dysplasia
Mondini dysplasia
Nijmegen breakage syndrome
Brill–Zinsser disease
MUTYH-associated polyposis
Trevor disease