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silver-Russell syndrome due to 7p11.2p13 microduplication

MONDO:0016479Mondo

Findings

No curated finding names silver-Russell syndrome due to 7p11.2p13 microduplication yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Features

29 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.

Blue scleraeHPOHP:0000592
- Frequent (30% to 79% of cases)
Clinodactyly of the 5th fingerHPOHP:0004209
- Frequent (30% to 79% of cases)
Delayed skeletal maturationHPOHP:0002750
- Frequent (30% to 79% of cases)
Downturned corners of mouthHPOHP:0002714
- Frequent (30% to 79% of cases)
Frontal bossingHPOHP:0002007
- Frequent (30% to 79% of cases)
Pointed chinHPOHP:0000307
- Frequent (30% to 79% of cases)
Postnatal growth retardationHPOHP:0008897
- Frequent (30% to 79% of cases)
Relative macrocephalyHPOHP:0004482
- Frequent (30% to 79% of cases)
Short chinHPOHP:0000331
- Frequent (30% to 79% of cases)
Short statureHPOHP:0004322
- Frequent (30% to 79% of cases)
Small for gestational ageHPOHP:0001518
- Frequent (30% to 79% of cases)
Thin upper lip vermilionHPOHP:0000219
- Frequent (30% to 79% of cases)

Show the remaining 17

Borderline intellectual disabilityHPOHP:0006889
- Occasional (5% to 29% of cases)
Facial asymmetryHPOHP:0000324
- Occasional (5% to 29% of cases)
Feeding difficulties in infancyHPOHP:0008872
- Occasional (5% to 29% of cases)
Fine hairHPOHP:0002213
- Occasional (5% to 29% of cases)
Gastrostomy tube feeding in infancyHPOHP:0011471
- Occasional (5% to 29% of cases)
High anterior hairlineHPOHP:0009890
- Occasional (5% to 29% of cases)

Where it sits

A kind of: partial duplication of the short arm of chromosome 7
Silver-Russell syndrome

Other names

4 names

Resolves to: silver-Russell syndrome due to 7p11.2p13 microduplication

Also called: Silver-Russell syndrome due to 7p11.2-p13 microduplicationSilver-Russell syndrome due to dup(7)(p11.2p13)Silver-Russell syndrome due to trisomy 7p11.2-p13Silver-Russell syndrome due to trisomy 7p11.2p13