Macrocephaly-short stature-paraplegia syndrome
Macrocephaly-short stature-paraplegia syndrome
Definition
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 macrocephaly, intellectual disability, short stature, spastic paraplegia and cns malformations, Volcke Soekarman syndrome, Volcke-Soekarman syndrome — per MONDO