Expanding the phenotype of thrombocytopenia absent radius syndrome with hypospadias

•Syndromic cases can show clinical features extending beyond those reported in the current literature.•Multilocus pathogenic variants can explain the apparent phenotypic expansion in some syndromic patients.•Patients with multiple genetic diagnoses are not so rare.•The clinical picture of thrombocytopenia absent radius syndrome seems to be expanded by hypospadias in our proband.•The proband received a dual genetic diagnosis of thrombocytopenia absent radius syndrome and thyroid dyshormonogenesis type 6.