Features include always present findings: Decreased body weight, Short stature, Relative macrocephaly, and Postnatal growth retardation and others; and common findings: Retrognathia, Feeding difficulties, Clinodactyly of the 5th finger, and Frontal bossing and others. 26 total HPO annotations.

IGF2 encodes insulin like growth factor 2 (180 aa). The insulin-like growth factors possess growth-promoting activity. Major fetal growth hormone in mammals. Plays a key role in regulating fetoplacental development. Highest expression in Adipose Visceral Omentum (103.2 TPM) and Fallopian Tube (96.7 TPM).

Silver-Russell syndrome 3 is caused by mutations in the IGF2 gene on chromosome 11.

The IGF2 protein participates in CHD8:CTCF-dependent repression of maternal IGF2 gene expression pathway.

IGF2 is classified as a druggable target (Clinically Actionable, Druggable Genome, Growth Factor, Hormone Activity, and Transcription Factor categories) with score 2.9.

Genetic testing for IGF2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for Silver-Russell syndrome 3 has been reported in the published literature.

Phenotype severity distribution: 5 always present features, 6 common features.

No clinical trials have been registered for Silver-Russell syndrome 3.

33 publications have been identified in PubMed for Silver-Russell syndrome 3. Research spans Epidemiology / Natural History (30%), Review / Meta-Analysis (18%), and Case Report / Case Series (18%).