mosaic trisomy 2
Findings
No curated finding names mosaic trisomy 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Mosaic trisomy 2 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by intrauterine growth restriction, growth and motor delay, craniofacial dysmorphism (e.g. microcephaly, hypertelorism, micro/anophthalmia, midface hypoplasia, cleft lip/palate), congenital heart and neural tube defects, as well as various skeletal (e.g. scoliosis, radioulnar hypoplasia, preaxial polydactyly) and gastrointestinal (e.g. intestinal malrotation, Hirschsprung disease) anomalies. Central nervous system malformations (including ventriculomegaly, thin corpus callosum, spina bifida) have also been reported.
Definition from the Mondo Disease Ontology (MONDO:0015763), read 2026-09-29. CC BY 4.0.
Features
24 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.
- Delayed gross motor developmentHPOHP:0002194
- Frequent (30% to 79% of cases)
- HerniaHPOHP:0100790
- Frequent (30% to 79% of cases)
- HypertelorismHPOHP:0000316
- Frequent (30% to 79% of cases)
- Intrauterine growth retardationHPOHP:0001511
- Frequent (30% to 79% of cases)
- MicrocephalyHPOHP:0000252
- Frequent (30% to 79% of cases)
- Midface retrusionHPOHP:0011800
- Frequent (30% to 79% of cases)
- OligohydramniosHPO
Show the remaining 12
- DolichocephalyHPOHP:0000268
- Occasional (5% to 29% of cases)
- Hypoplasia of the radiusHPOHP:0002984
- Occasional (5% to 29% of cases)
- Hypoplasia of the ulnaHPOHP:0003022
- Occasional (5% to 29% of cases)
- Intestinal malrotationHPOHP:0002566
- Occasional (5% to 29% of cases)
- MicrophthalmiaHPOHP:0000568
- Occasional (5% to 29% of cases)
- Neural tube defectHPOHP:0045005
- Occasional (5% to 29% of cases)
Where it sits
- A kind of
Other names
3 names
Resolves to: mosaic trisomy 2
- Also called
- Mosaic trisomy chromosome 2Mosaic trisomy type 2trisomy 2 mosaicism