Search for a rare disease
Other search option(s)
Mosaic trisomy 20
Disease definition
Mosaic trisomy 20 is a rare chromosomal anomaly syndrome with a highly variable phenotype ranging from normal (in the majority of cases) to a mild, subtle phenotype principally characterized by spinal abnormalities (i.e. stenosis, vertebral fusion, and kyphosis), hypotonia, lifelong constipation, sloped shoulders, skin pigmentation abnormalities (i.e. linear and whorled nevoid hypermelanosis) and significant learning disabilities despite normal intelligence. More severe phenotypes, with patients presenting psychomotor and speech delay, mild facial dysmorphism, cardiac (i.e. ventricular septal defect, dysplastic tricuspid mitral valve) and renal anomalies (e.g. horseshoe kidneys), have also been reported.
ORPHA:1724
Classification level: Disorder- Synonym(s):
- Mosaic trisomy chromosome 20
- Trisomy 20 mosaicism
- Prevalence: Unknown
- Inheritance: -
- Age of onset: Antenatal, Neonatal
- ICD-10: Q92.1
- OMIM: -
- UMLS: -
- MeSH: -
- GARD: -
- MedDRA: -
A summary on this disease is available in Deutsch (2017) Español (2017) Français (2017) Italiano (2017) Nederlands (2017)
Detailed information
General public
- Article for general public
- Svenska (2019) - Socialstyrelsen


Additional information