| A rare multiple congenital anomalies/dysmorphic syndrome characterized by polydactyly, syndactyly (pre or post‑axial polydactyly of hands and/or feet with variable cutaneous syndactyly), craniofacial features (including macrocephaly, frontal bossing, hypertelorism and broad nasal bridge) that are similar to those observed in patients with Greig cephalopolysyndactyly syndrome, as well as clear developmental delay, moderate to severe intellectual disability, seizures and structural brain abnormalities including agenesis/hypoplasia of the corpus callosum. Additional central nervous system anomalies may include ventriculomegaly, aqueductal stenosis and other midline defects. Patients present with larger microdeletions that encompass the GLI3 gene and depending on the size of the deletion, additional clinical features such as hernias and hyperglycemia may be present. |
