Snyder-Robinson syndrome
MeSH: C536678ORPHA: 3063
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 Snyder-Robinson syndrome, sourced from HPO and Orphanet clinical annotations.
KyphoscoliosisCleft palateThick lower lip vermilionNarrow faceLong faceFacial asymmetryOsteoporosisArachnodactylyDisproportionate tall statureHypernasal speechUnsteady gaitKyphosisDecreased muscle massFloppy infantLong toeSlender toeCryptorchidismTesticular atrophyHypospadiasNarrow mouthHigh palateHypertelorismSmooth philtrumLow-set earsBulbous noseProminent nasal bridgeAnteverted naresWebbed neckUpslanted palpebral fissureSynophrysDental crowdingDelayed speech and language developmentMild intellectual disabilityMyoclonusAbsent speechAbnormal facial shapeGeneralized myoclonic seizureEEG abnormalityInability to walkRecurrent fracturesDifficulty standingInvoluntary movementsPatchy hypo- and hyperpigmentationUnilateral ptosisAsymmetry of the earsFocal motor seizureSparse eyebrowEctopic kidneyEverted lower lip vermilionBrachycephalyMandibular prognathiaShort philtrumCupped earSmall earlobeThickened helicesProptosisPectus excavatumPectus carinatumMegalencephalyCerebral edemaProfound intellectual disabilityShort statureWide intermamillary distanceAbnormality of the Leydig cellsHigh myopiaCamptodactyly
Classification & Codes
MeSH Code
C536678Orphanet Code
ORPHA:3063Snyder-Robinson syndrome
| MeSH | C536678 |
| Orphanet | ORPHA:3063 |
| Treatments | 0 drug(s) |
| Symptoms on record | 66 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO