macrocephaly-short stature-paraplegia syndrome
MONDO:0016571Mondo
Findings
No curated finding names macrocephaly-short stature-paraplegia syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0016571), read 2026-09-29. CC BY 4.0.
Where it sits
Other names
3 names
Resolves to: macrocephaly-short stature-paraplegia syndrome
- Also called
- macrocephaly, intellectual disability, short stature, spastic paraplegia and cns malformationsVolcke Soekarman syndromeVolcke-Soekarman syndrome