silver-Russell syndrome due to 7p11.2p13 microduplication
ORPHA: 2311371 Treatment Available
Overview
human disease
Available Treatments (1)
| Drug | Form | Status | Countries | Lead Time |
|---|---|---|---|---|
| Growth hormone (somatropin) Orphan Cold Chain | Subcutaneous injection, 5mg, 12mg cartridges | FDA Approved | 8 | 14d |
Clinical Presentation
Signs and symptoms associated with silver-Russell syndrome due to 7p11.2p13 microduplication, sourced from HPO and Orphanet clinical annotations.
Thin upper lip vermilionPointed chinShort chinBlue scleraeSmall for gestational ageFrontal bossingDownturned corners of mouthDelayed skeletal maturationClinodactyly of the 5th fingerShort statureRelative macrocephalyPostnatal growth retardationLabial hypoplasiaShort philtrumFacial asymmetryTriangular faceNarrow noseLong eyelashesUpslanted palpebral fissureHyperhidrosisProminent fingertip padsNarrow footHypoglycemiaFine hairBorderline intellectual disabilityFeeding difficulties in infancyHigh anterior hairlineMild global developmental delayGastrostomy tube feeding in infancy
Classification & Codes
Orphanet Code
ORPHA:231137silver-Russell syndrome due to 7p11.2p13 microduplication
| Orphanet | ORPHA:231137 |
| Treatments | 1 drug(s) |
| Symptoms on record | 29 signs |
| Status | published |
Treatment Summary
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO