silver-Russell syndrome due to maternal uniparental disomy of chromosome 11
ORPHA: 231147
Overview
human disease
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with silver-Russell syndrome due to maternal uniparental disomy of chromosome 11, sourced from HPO and Orphanet clinical annotations.
Triangular faceSmall for gestational ageFrontal bossingClinodactyly of the 5th fingerCleft palateFacial asymmetryAbnormality of the skeletal systemHyperhidrosisGlobal developmental delayIntrauterine growth retardationPremature birthAbnormal heart morphologyHypoglycemiaDelayed gross motor developmentExternal genital hypoplasiaSecondary microcephalyFeeding difficulties in infancyGastrojejunal tube feeding in infancyAsymmetric growthLower limb asymmetry
Classification & Codes
Orphanet Code
ORPHA:231147silver-Russell syndrome due to maternal uniparental disomy of chromosome 11
| Orphanet | ORPHA:231147 |
| Treatments | 0 drug(s) |
| Symptoms on record | 20 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO