Macrocephaly-short stature-paraplegia syndrome

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

1 clinical trial for this condition and its sub-types, 0 tagged with Macrocephaly-short stature-paraplegia syndrome itself.