For example, SHH has been observed in association with (1) holoprosencephaly and cleidocranial dysplasia in a woman with a de novo 6;7 reciprocal translocation with one breakpoint 15 kb upstream of SHH [90], and (2) pre-axial polydactyly-hypertrichosis in a family found to have a 2 kb deletion upstream of the SHH promoter [91]. Here, SHH is linked to cleidocranial dysplasia 1.