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Up to: Syndromic disease · Congenital nervous system disorder · Multiple congenital anomalies/dysmorphic syndrome-intellectual disability · Central nervous system malformation
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.
This condition has no sub-types.