silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
Findings
No curated finding names silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 is a genetic malformation syndrome with short stature characterized by severe prenatal and postnatal growth retardation, feeding difficulties, body asymmetry, dysmorphic craniofacial features (triangular-shaped face, relative macrocephaly, frontal bossing, micrognathia, down-turned corners of the mouth) and other anomalies (fifth finger clinodactyly, café au lait macules, male genital anomalies, mild developmental delay and/or speech delay with movement disorders).
Definition from the Mondo Disease Ontology (MONDO:0019913), read 2026-09-29. CC BY 4.0.
Features
59 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 skeletal maturationHPOHP:0002750
- Very frequent (80% to 99% of cases)
- Intrauterine growth retardationHPOHP:0001511
- Very frequent (80% to 99% of cases)
- MicrognathiaHPOHP:0000347
- Very frequent (80% to 99% of cases)
- Postnatal growth retardationHPOHP:0008897
- Very frequent (80% to 99% of cases)
- Abnormal facial shapeHPOHP:0001999
- Frequent (30% to 79% of cases)
- Abnormality of the outer earHPOHP:0000356
- Frequent (30% to 79% of cases)
Show the remaining 47
- Fasting hypoglycemiaHPOHP:0003162
- Frequent (30% to 79% of cases)
- Feeding difficulties in infancyHPOHP:0008872
- Frequent (30% to 79% of cases)
- Gastroesophageal refluxHPOHP:0002020
- Frequent (30% to 79% of cases)
- Global developmental delayHPOHP:0001263
- Frequent (30% to 79% of cases)
- Motor delayHPOHP:0001270
- Frequent (30% to 79% of cases)
- Prominent foreheadHPOHP:0011220
- Frequent (30% to 79% of cases)
Where it sits
Other names
2 names
Resolves to: silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
- Also called
- Silver-Russell syndrome due to maternal uniparental disomy of chromosome type 7UPD(7)mat