In the latest report, two lethal composite heterozygous variants in FAM20B (NM_014864 c.174_178delTACCT p.T59Afs*19/c.1038delG p.N347Mfs*4) were identified in a newborn who died soon after birth [41] and who suffered from a spectrum of defects highly similar to the autosomal recessive heterogeneous disorder, Desbuquois dysplasia (DBQD), which was characterized by joint laxity and skeletal change [53,54,55,56]. Here, FAM20B is linked to Desbuquois dysplasia.