silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
ORPHA: 96182
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 7, sourced from HPO and Orphanet clinical annotations.
Thin vermilion borderTriangular faceAbnormality of the outer earDelayed speech and language developmentBrachydactylySyndactylyGlobal developmental delayMotor delayFailure to thriveSmall for gestational ageAbnormal facial shapeGastroesophageal refluxDownturned corners of mouthFasting hypoglycemiaRelative macrocephalyFeeding difficulties in infancyProminent foreheadClinodactylyAsymmetric growthCryptorchidismHypospadiasAbnormality of the genitourinary systemNarrow mouthPierre-Robin sequenceShort chinDental crowdingMicrodontiaDecreased response to growth hormone stimulation testPrecocious pubertyInsulin resistanceHyperhidrosisSpecific learning disabilityDelayed closure of the anterior fontanelleAbnormally high-pitched voiceAbnormal heart morphologyFrontal bossingVomitingConstipationScoliosisHigh, narrow palateAspirationObstructive sleep apneaDecreased muscle massNarrow joint spaces of the elbowClinodactyly of the 5th fingerPoor appetiteSevere intrauterine growth retardationShoulder dimpleIncreased overbitePremature adrenarcheOral aversionLower limb asymmetryEsophagitisHorseshoe kidneyRenal dysplasiaMicrognathiaIntrauterine growth retardationDelayed skeletal maturationPostnatal growth retardation
Classification & Codes
Orphanet Code
ORPHA:96182silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
| Orphanet | ORPHA:96182 |
| Treatments | 0 drug(s) |
| Symptoms on record | 59 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO