MONDO_0016571 (macrocephaly-short stature-paraplegia syndrome) is characterized by macrocephaly and midface hypoplasia, intellectual deficit, short stature, spastic paraplegia and severe central nervous system anomalies (hydrocephalus and Dandy-Walker malformation). It has been described in two unrelated adults. Also known as: Volcke Soekarman syndrome, Volcke-Soekarman syndrome, macrocephaly, intellectual disability, short stature, spastic paraplegia and cns malformations.