rhombencephalosynapsis
MONDO:0018946Mondo
Findings
No curated finding names rhombencephalosynapsis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Rhombencephalosynapsis (RS) is a rare malformation of the cerebellum characterized by the association of agenesis (total or partial) of the vermis and fusion of the cerebellar hemispheres.
Definition from the Mondo Disease Ontology (MONDO:0018946), read 2026-09-29. CC BY 4.0.
Features
30 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal dentate nucleus morphologyHPOHP:0100321
- Very frequent (80% to 99% of cases)
- Agenesis of cerebellar vermisHPOHP:0002335
- Very frequent (80% to 99% of cases)
- Anteverted naresHPOHP:0000463
- Very frequent (80% to 99% of cases)
- Fusion of the cerebellar hemispheresHPOHP:0006899
- Very frequent (80% to 99% of cases)
- HydrocephalusHPOHP:0000238
- Very frequent (80% to 99% of cases)
- HypertelorismHPOHP:0000316
- Very frequent (80% to 99% of cases)
- MacrocephalyHPOHP:0000256
- Very frequent (80% to 99% of cases)
- MicroretrognathiaHPOHP:0000308
- Very frequent (80% to 99% of cases)
- Narrow mouthHPOHP:0000160
- Very frequent (80% to 99% of cases)
- Posteriorly rotated earsHPOHP:0000358
- Very frequent (80% to 99% of cases)
- Short noseHPOHP:0003196
- Very frequent (80% to 99% of cases)
- VentriculomegalyHPOHP:0002119
- Very frequent (80% to 99% of cases)
Show the remaining 18
- AtaxiaHPOHP:0001251
- Frequent (30% to 79% of cases)
- Fusion of the left and right thalamiHPOHP:0010664
- Frequent (30% to 79% of cases)
- Intellectual disabilityHPOHP:0001249
- Frequent (30% to 79% of cases)
- Septo-optic dysplasiaHPOHP:0100842
- Frequent (30% to 79% of cases)
- Abnormal renal morphologyHPOHP:0012210
- Occasional (5% to 29% of cases)
- Abnormality of the cardiovascular systemHPOHP:0001626
- Occasional (5% to 29% of cases)
Where it sits
- A kind of