Mutations in the human homologue of Drosophila patched (PTCH1), a tumor suppressor gene on chromosome 9, were identified as the underlying genetic event in this syndrome.
Nevoid basal-cell carcinoma syndrome
Neurofibromatosis
Familial multiple lipomatosis
Hereditary multiple exostoses
Genodermatosis
Frontonasal dysplasia
Neurofibromatosis type I
Multiple hamartoma syndrome