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. [ ]
Term info
macrocephaly-short stature-paraplegia syndrome
- Volcke-Soekarman syndrome
ordo_malformation_syndrome
http://identifiers.org/mesh/C537718, http://purl.obolibrary.org/obo/Orphanet_2427, http://identifiers.org/snomedct/722033000
MONDO:0016571