Microcephaly-brachydactyly-kyphoscoliosis syndrome is characterized by profound intellectual deficit in association with microcephaly, short stature, brachydactyly type D, a flattened occiput, downslanting palpebral fissures, low-set large ears, a broad prominent nose and kyphoscoliosis. It has been described in three sisters. The disorder is likely to be transmitted as an autosomal recessive trait. The disease is microcephaly-brachydactyly-kyphoscoliosis syndrome (Monarch Disease Ontology entry MONDO_0018091). Also known as: Viljoen-Kallis-Voges syndrome.