Silver-Russell syndrome
MeSH: D056730ORPHA: 813
Overview
growth disorder
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, sourced from HPO and Orphanet clinical annotations.
Triangular faceLow-set earsBlue scleraeIntrauterine growth retardationShort statureCachexiaRelative macrocephalyPostnatal growth retardationProminent foreheadFeeding difficultiesCryptorchidismAbnormal male external genitalia morphologyThin vermilion borderDelayed cranial suture closureMicrognathiaDental crowdingInsulin resistanceMotor delayFailure to thrive in infancyAbnormally high-pitched voicePremature birthRecurrent hypoglycemiaConstipationGastroesophageal refluxSleep disturbanceDownturned corners of mouthDelayed skeletal maturationArthralgiaDecreased muscle massClinodactyly of the 5th fingerAbnormality of the calcaneusDecreased testicular sizeShoulder dimpleAbnormal appendicular skeleton morphologyPremature adrenarcheAsymmetric growthLower limb asymmetryUpper limb asymmetryHypospadiasAbnormality of the urinary systemAbnormal vagina morphologyAutistic behaviorPrecocious pubertyCafe-au-lait spotHyperhidrosisMild intellectual disabilityObesityAbnormality of the cardiovascular systemSandal gapScoliosisSecondary microcephalyGeneralized neonatal hypotoniaPosteriorly rotated ears
Classification & Codes
MeSH Code
D056730Orphanet Code
ORPHA:813Silver-Russell syndrome
| MeSH | D056730 |
| Orphanet | ORPHA:813 |
| Treatments | 0 drug(s) |
| Symptoms on record | 53 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO