Macrocephaly-short stature-paraplegia syndrome
Alternate names
Volcke Soekarman syndrome; Volcke-Soekarman 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.
NIH genetic and rare disease info
Macrocephaly-short stature-paraplegia syndrome is a rare disease.
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