Homozygous or compound heterozygous mutations of SHOX and/or its downstream enhancers are detected in 75% of LMD patients (Benito-Sanz et al., 2006; Benito-Sanz et al., 2012; Chen et al., 2009; Huber et al., 2006). Here, SHOX is linked to Langer mesomelic dysplasia.