Orphanet: Macrocephaly short stature paraplegia syndrome

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Disease definition

A rare, syndromic intellectual disability characterized by macrocephaly, short stature, intellectual disability, variable degree of spastic paraplegia, central nervous system malformations (hydrocephalus, Dandy-Walker malformation), and dysmorphic features, such as high and broad forehead, midface hypoplasia, and small and broad hands and feet. There have been no further descriptions in the literature since 1993.

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Macrocephaly-short stature-paraplegia syndrome

ORPHA:2427

A summary on this disease is available in Español (2020) Français (2020) Nederlands (2020) Deutsch (2006) Italiano (2006)

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