mosaic trisomy 7
Findings
No curated finding names mosaic trisomy 7 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Mosaic trisomy 7 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, mostly characterized by blaschkolinear skin pigmentary dysplasia, body asymmetry, enamel dysplasia, and developmental and growth delay. Intellectual disability, facial dysmorphism (e.g. frontal bossing, abnormal palpebral fissures, strabismus, abnormally shaped ears, and micrognathia), and genital anomalies (e.g. undescended testes) have also been observed. It has been reported to be associated with maternal uniparental disomy of chromosome 7, resulting in a Silver-Russell syndrome phenotype. Cases with no associated malformations have also been reported.
Definition from the Mondo Disease Ontology (MONDO:0015771), read 2026-09-29. CC BY 4.0.
Features
18 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.
- Depigmentation/hyperpigmentation of skinHPOHP:0007483
- Frequent (30% to 79% of cases)
- Intrauterine growth retardationHPOHP:0001511
- Frequent (30% to 79% of cases)
- Macular hypopigmentationHPOHP:0007988
- Frequent (30% to 79% of cases)
- Postnatal growth retardationHPOHP:0008897
- Frequent (30% to 79% of cases)
- Abnormal heart morphologyHPOHP:0001627
- Occasional (5% to 29% of cases)
- Cleft palateHPOHP:0000175
- Occasional (5% to 29% of cases)
- Enamel hypoplasia
Show the remaining 6
- MacrocephalyHPOHP:0000256
- Occasional (5% to 29% of cases)
- MicrognathiaHPOHP:0000347
- Occasional (5% to 29% of cases)
- Mild global developmental delayHPOHP:0011342
- Occasional (5% to 29% of cases)
- Premature birthHPOHP:0001622
- Occasional (5% to 29% of cases)
- Renal dysplasiaHPOHP:0000110
- Occasional (5% to 29% of cases)
- Small for gestational ageHPOHP:0001518
- Occasional (5% to 29% of cases)
Where it sits
- A kind of
Other names
1 name
Resolves to: mosaic trisomy 7
- Also called
- Mosaic trisomy type 7