Schwartz-Jampel syndrome 1
ORPHA: 800
Overview
autosomal recessive disease characterized by neuromyotonia and chondrodysplasia that has material basis in hypomorphic mutations in the HSPG2 gene on chromosome 1p36
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 Schwartz-Jampel syndrome 1, sourced from HPO and Orphanet clinical annotations.
Inguinal herniaAbnormality of the ureterAbnormality of the urinary systemNarrow mouthCleft palatePursed lipsTrismusHigh palateEverted lower lip vermilionMicrocephalyFull cheeksLow anterior hairlineMask-like faciesHypertelorismLong philtrumMicrognathiaOverfolded helixProminent nasal bridgeShort neckMicrocorneaStrabismusVisual impairmentPtosisCataractAbnormal eyebrow morphologyMyopiaBlepharophimosisAbnormality of the pharynxBlepharospasmDental malocclusionIrritabilityAnxietyPectus excavatumPectus carinatumAbnormal rib morphologyNephrolithiasisSprengel anomalyPlatyspondylyOsteoporosisAbnormal metaphysis morphologyEctopia lentisWrist flexion contractureIntellectual disabilityHyporeflexiaHypertoniaGait disturbanceMuscle weaknessHip dysplasiaJoint stiffnessUmbilical herniaPrenatal movement abnormalityPolyhydramniosLaryngomalaciaDysphoniaAbnormally high-pitched voiceWeak voiceTalipes equinovarusPes planusMalignant hyperthermiaPulmonary arterial hypertensionRespiratory insufficiencyApneaAbnormal speech patternGeneralized hirsutismMyotoniaWormian bonesScoliosisSkeletal dysplasiaCoxa valgaDelayed skeletal maturationArthrogryposis multiplex congenitaKyphosisCoxa varaGenu valgumMicromeliaElbow dislocationShoulder flexion contractureProtrusio acetabuliMyopathySkeletal muscle atrophyElevated circulating creatine kinase concentrationHip contractureSpinal rigidityHyperlordosisMyalgiaEMG abnormalitySkeletal muscle hypertrophyShort statureDecreased body weightCachexiaFlexion contracture of toeAbnormal epiphysis morphologyBowing of the long bonesAttention deficit hyperactivity disorderLong eyelashes in irregular rowsAplasia/Hypoplasia affecting the eyeDecreased testicular sizeFeeding difficulties in infancyDistichiasisMetatarsus valgusAbnormality of immune system physiologyIncreased bone mineral densitySupernumerary toothArrhythmiaFlat faceElevated circulating aldolase concentrationAbnormally ossified vertebraeOdontogenic neoplasmAbnormally straight spineTesticular torsionPosteriorly rotated ears
Classification & Codes
Orphanet Code
ORPHA:800Schwartz-Jampel syndrome 1
| Orphanet | ORPHA:800 |
| Treatments | 0 drug(s) |
| Symptoms on record | 111 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO