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macrocephaly-short stature-paraplegia syndrome

^ http://purl.obolibrary.org/obo/MONDO_0016571

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. [ Orphanet:2427 ]

Term info

database cross reference
  • Orphanet:2427 (MONDO:equivalentTo)
  • SCTID:722033000 (MONDO:equivalentTo)
  • MESH:C537718 (MONDO:equivalentTo)
Subsets

ordo_malformation_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.

exactMatch

http://identifiers.org/mesh/C537718, http://purl.obolibrary.org/obo/Orphanet_2427, http://identifiers.org/snomedct/722033000

has exact synonym

Volcke-Soekarman syndrome

id

MONDO:0016571