label: macrocephaly-short stature-paraplegia syndrome
label_lc: macrocephaly-short stature-paraplegia syndrome
description: "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."