Orphanet: Macrocephaly short stature paraplegia syndrome

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Macrocephaly-short stature-paraplegia syndrome

Disease 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.


Classification level: Disorder
  • Synonym(s):
    • Volcke-Soekarman syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Unknown 
  • Age of onset: Adult
  • ICD-10: -
  • OMIM: -
  • UMLS: C2931595
  • MeSH: -
  • GARD: -
  • MedDRA: -
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