This rare chimera is characterized by a 120-bp deletion in exon 35 of TNXB and results in TNXB haploinsufficiency and disrupted TGF-β signaling; when found in the homozygous state, it leads to a contiguous gene syndrome consisting of CAH and Ehlers-Danlos syndrome (EDS) [7, 31]. This evidence concerns the gene TGFB1 and Ehlers-Danlos syndrome.