McDonough syndrome belongs to the group of multiple congenital anomalies/mental retardation (MCA/MR) syndromes and is characterised by intellectual deficit, distinctive facies (upward slanting palpebral fissures, squint), kyphoscoliosis, diastasis recti, cryptorchidism, and a congenital heart defect. Two families have been reported. Autosomal recessive inheritance was suggested.