Wiedemann-Steiner syndrome
ORPHA: 319182
Overview
hereditary 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 Wiedemann-Steiner syndrome, sourced from HPO and Orphanet clinical annotations.
Delayed speech and language developmentThin upper lip vermilionRound faceHypertelorismFacial asymmetryLong philtrumWide nasal bridgeLong eyelashesThick eyebrowAtypical behaviorAggressive behaviorMotor stereotypyShort attention spanAnxietyLow frustration toleranceHyperactivityDecreased response to growth hormone stimulation testTapered fingerHypotoniaDysphagiaDelayed gross motor developmentDelayed skeletal maturationCongenital, generalized hypertrichosisAccelerated skeletal maturationPostnatal growth retardationAbnormality of the elbowFeeding difficultiesShort palpebral fissureHigh palateMicrocephalyDolichocephalyEpicanthusHigh foreheadLow-set earsWebbed neckTelecanthusPtosisSynophrysPectus excavatumSacral dimpleAbnormality of the handIntellectual disabilitySeizureAbnormal corpus callosum morphologyFailure to thriveIntrauterine growth retardationGastroesophageal refluxGeneralized hirsutismPsychomotor deteriorationShort noseClinodactyly of the 5th fingerShort statureAplasia/Hypoplasia of the ribsRhizomeliaHyperextensibility at elbowFlat faceClinodactylyDilatation of renal calices
Classification & Codes
Orphanet Code
ORPHA:319182Wiedemann-Steiner syndrome
| Orphanet | ORPHA:319182 |
| Treatments | 0 drug(s) |
| Symptoms on record | 58 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO