Silver-Russell syndrome 3
MONDO:0014663Mondo
Findings
No curated finding names Silver-Russell syndrome 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
20 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.
- Decreased body weightHPOHP:0004325
- 4 of 4 reported patients
- Postnatal growth retardationHPOHP:0008897
- 4 of 4 reported patients
- Relative macrocephalyHPOHP:0004482
- 4 of 4 reported patients
- Short statureHPOHP:0004322
- 4 of 4 reported patients
- Small for gestational ageHPOHP:0001518
- 4 of 4 reported patients
- Frontal bossingHPOHP:0002007
- 3 of 4 reported patients
- RetrognathiaHPOHP:0000278
- 3 of 4 reported patients
- Triangular faceHPOHP:0000325
- 3 of 4 reported patients
- Clinodactyly of the 5th fingerHPOHP:0004209
- 2 of 4 reported patients
- Feeding difficultiesHPOHP:0011968
- 2 of 4 reported patients
- Low-set earsHPOHP:0000369
- 2 of 4 reported patients
- Ambiguous genitaliaHPOHP:0000062
- 1 of 4 reported patients
Show the remaining 8
- Antecubital pterygiumHPOHP:0009760
- 1 of 4 reported patients
- Elbow contractureHPOHP:0034391
- 1 of 4 reported patients
- Global developmental delayHPOHP:0001263
- 1 of 4 reported patients
- HypotoniaHPOHP:0001252
- 1 of 4 reported patients
- OligohydramniosHPOHP:0001562
- 1 of 4 reported patients
- Penoscrotal hypospadiasHPOHP:0000808
- 1 of 4 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- IGF2HGNC:5466
- Definitive · ClinGen · Autosomal dominant · 2023
- Definitive · Illumina · Autosomal dominant · 2021
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
2 names
Resolves to: Silver-Russell syndrome 3
- Also called
- growth restriction, severe, with distinctive faciesSRS3