rhombencephalosynapsis
ORPHA: 59315
Overview
Rhombencephalosynapsis (RS) is a rare malformation of the cerebellum characterised by the association of agenesis (total or partial) of the vermis and fusion of the cerebellar hemispheres
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with rhombencephalosynapsis, sourced from HPO and Orphanet clinical annotations.
Abnormality of the uterusNarrow mouthHydrocephalusMacrocephalyAbnormality of the faceMicroretrognathiaHypertelorismAnteverted naresAbnormality of the eyeAbnormality of visionIntellectual disabilityAtaxiaAbnormality of the cardiovascular systemAnal atresiaEsophageal atresiaVentriculomegalyAganglionic megacolonAgenesis of cerebellar vermisTracheoesophageal fistulaShort noseFinger syndactylyFusion of the cerebellar hemispheresShort phalanx of fingerComplete duplication of thumb phalanxPolydactylyFusion of the left and right thalamiAbnormal renal morphologyAbnormal dentate nucleus morphologySepto-optic dysplasiaPosteriorly rotated ears
Classification & Codes
Orphanet Code
ORPHA:59315rhombencephalosynapsis
| Orphanet | ORPHA:59315 |
| Treatments | 0 drug(s) |
| Symptoms on record | 30 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO