Macrocephaly-short stature-paraplegia syndrome

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Macrocephaly-short stature-paraplegia syndrome

Synonyms: Volcke-Soekarman syndrome

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version April 2024

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