Myhre syndrome (SMAD4 gene defect) is characterized by short stature, small hands, thick skin, mental retardation, microcephaly, midface hypoplasia, prognathism, blepharophimosis, square body shape, broad ribs, iliac hypoplasia, flattened vertebrae, thick calvaria, and congenital heart defects [7]. Here, SMAD4 is linked to Myhre syndrome.