At the core of the disorder there is a homozygous or compound heterozygous mutation or deletion of the SHOX (Short Stature Homeobox), SHOXY (Short Stature Homeobox Y-linked) or PAR1 (where SHOX enhancer elements are located) genes, which is inherited in a pseudosomal recessive manner.
Langer mesomelic dysplasia
Campomelic dysplasia
Acromesomelic dysplasia
Mondini dysplasia
Nijmegen breakage syndrome
Brill–Zinsser disease
MUTYH-associated polyposis
Trevor disease