mosaic trisomy 5
Findings
No curated finding names mosaic trisomy 5 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Mosaic trisomy 5 is a rare chromosomal anomaly syndrome with a variable phenotype ranging from clinically normal to patients presenting intrauterine growth retardation, congenital heart anomalies (mainly ventricular septal defect), multiple dysmorphic features (e.g. hypertelorism, prominent nasal bridge) and other congenital anomalies (incl. eventration of diaphragm, agenesis of corpus callosum, cloverleaf skull, clinodactyly, anteriorly placed anus). Psychomotor development may be normal in spite of low growth parameters being associated.
Definition from the Mondo Disease Ontology (MONDO:0019866), read 2026-09-29. CC BY 4.0.
Where it sits
- A kind of
Other names
3 names
Resolves to: mosaic trisomy 5
- Also called
- Mosaic trisomy chromosome 5Mosaic trisomy type 5trisomy 5 mosaicism